262 results on '"Huissoon, Aarnoud"'
Search Results
2. SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study
- Author
-
Shields, Adrian M., Faustini, Sian E., Hill, Harriet J., Al-Taei, Saly, Tanner, Chloe, Ashford, Fiona, Workman, Sarita, Moreira, Fernando, Verma, Nisha, Wagg, Hollie, Heritage, Gail, Campton, Naomi, Stamataki, Zania, Klenerman, Paul, Thaventhiran, James E. D., Goddard, Sarah, Johnston, Sarah, Huissoon, Aarnoud, Bethune, Claire, Elcombe, Suzanne, Lowe, David M., Patel, Smita Y., Savic, Sinisa, Burns, Siobhan O., and Richter, Alex G.
- Published
- 2022
- Full Text
- View/download PDF
3. Development and Validation of the Anaphylaxis Quality of Life Scale for Adults
- Author
-
Knibb, Rebecca C., Huissoon, Aarnoud P., Baretto, Richard, Ekbote, Anjali, Onyango-Odera, Sham, Screti, Cassandra, Newman, Kristina L., and Krishna, Mamidipudi T.
- Published
- 2022
- Full Text
- View/download PDF
4. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
- Author
-
Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan
- Published
- 2021
- Full Text
- View/download PDF
5. Immunogenicity of single vaccination with BNT162b2 or ChAdOx1 nCoV-19 at 5–6 weeks post vaccine in participants aged 80 years or older: an exploratory analysis
- Author
-
Parry, Helen, Bruton, Rachel, Tut, Gokhan, Ali, Myah, Stephens, Christine, Greenwood, David, Faustini, Sian, Hughes, Sam, Huissoon, Aarnoud, Meade, Rory, Brown, Kevin, Amirthalingam, Gayatri, Otter, Ashley, Hallis, Bassam, Richter, Alex, Zuo, Jianmin, and Moss, Paul
- Published
- 2021
- Full Text
- View/download PDF
6. COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience
- Author
-
Anantharachagan, Ariharan, Arumugakani, Gururaj, Baker, Kenneth, Bahal, Sameer, Bermingham, William, Bhole, Malini, Boules, Evon, Bright, Philip, Burns, Siobhan, Cleave, Betsy, Dempster, John, Devlin, Lisa, Dhalla, Fatima, Drewe, Elizabeth, Duncan, Christopher, Dziadzio, Magdalena, Elkhalifa, Shuayb, Gennery, Andrew, Goddard, Sarah, Grigoriadou, Sofia, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jain, Rashmi, Jolles, Stephen, Johnston, Sarah, Leeman, Lucy, Mahabir, Shanti, MacLochlainn, Dylan, McDermott, Elizabeth, Misbah, Siraj, Morsi, Hadeil, Murng, Sai, Noorani, Sadia, O’Brien, Rachael, Patel, Smita, Price, Arthur, Richter, Alex, Savic, Sinisa, Seneviratne, Suranjith, Shields, Adrian, Shrimpton, Anna, Stroud, Catherine, Vaitla, Prashantha, Verma, Nisha, Shields, Adrian M., Burns, Siobhan O., and Richter, Alex G.
- Published
- 2021
- Full Text
- View/download PDF
7. Isolating polysaccharide IgG pneumococcal antibody responses by pre-adsorption of conjugate vaccine serotypes: A modified approach for the conjugate vaccine era
- Author
-
Mohamed, Omar E., Williams, Leigh, Wong, Gabriel K., Hayes, Mark, Townsend, Kelly, Harding, Stephen, and Huissoon, Aarnoud P.
- Published
- 2020
- Full Text
- View/download PDF
8. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
- Author
-
Adhya, Zoe, Alachkar, Hana, Anantharachagan, Ariharan, Antrobus, Richard, Arumugakani, Gururaj, Ashford, Sofie, Astle, William J., Attwood, Anthony, Bacchelli, Chiara, Batista, Joana, Baxendale, Helen E., Bethune, Claire, Bibi, Shahnaz, Bleda, Marta, Boardman, Barbara, Booth, Claire, Bradley, John R., Breen, Gerome, Brown, Matthew, Browning, Michael J., Brownlie, Mary, Buckland, Matthew S., Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Chandra, Anita, Brod, Naomi Clements, Clifford, Hayley, Cooper, Nichola, Daugherty, Louise C., Davies, E.G., Davies, Sophie, Davis, John, Deacock, Sarah, Deevi, Sri V.V., Dempster, John, Devlin, Lisa A., Dewhurst, Eleanor F., Downes, Kate, Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Edwards, Karen, Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fletcher, Debra, Fox, James, Frary, Amy J., Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Ghurye, Rohit, Gilmour, Kimberly C., Gleadall, Nicholas S., Goddard, Sarah, Gordins, Pavels, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Hu, Fengyuan, Hughes, Stephen, Huissoon, Aarnoud P., James, Roger, Jolles, Stephen, Jolley, Jennifer, Jones, Julie, Karim, Yousuf, Kasanicki, Mary A., Kelleher, Peter, Kempster, Carly, Kiani, Sorena, Kingston, Nathalie, Klein, Nigel, Kostadima, Myrto, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Laffan, James, Allen, Hana Lango, Lear, Sara E., Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Lyons, Paul A., Maimaris, Jesmeen, Manson, Ania, Mapeta, Rutendo, Martin, Jennifer, McCarthy, Mark I., McDermott, Elizabeth M., McKinney, Harriet, Meacham, Stuart, Megy, Karyn, Millar, Hazel, Mistry, Anoop, Morrisson, Valerie, Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Penkett, Christopher J., Petersen, Romina, Ponsford, Mark J., Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raymond, F. Lucy, Rayner-Matthews, Paula J., Richter, Alex, Samani, Nilesh, Samarghitean, Crina, Sanchis-Juan, Alba, Sargur, Ravishankar B., Savic, Sinisa, Seneviratne, Suranjith L., Sewell, W.A. Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Simeoni, Ilenia, Simpson, Michael A., Smith, Kenneth G.C., Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stephens, Jonathan, Stirrups, Kathleen E., Thaventhiran, James E., Thomas, David, Thomas, Moira J., Thomas, Patrick, Thrasher, Adrian J., Tilly, Tobias, Titterton, Catherine, Treadaway, Paul, Tuna, Salih, Turro, Ernest, Urniaz, Rafal, von Ziegenweidt, Julie, Walker, Neil, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Willcocks, Lisa, Wood, Nicholas, Wood, Yvette, Workman, Sarita, Worth, Austen, Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Zlamalova, Eliska, Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Frede, Natalie, Proietti, Michele, Bulashevska, Alla, Camacho-Ordonez, Nadezhda, Varjosalo, Markku, Kinnunen, Matias, de Vries, Esther, van der Meer, Jos W.M., Ameratunga, Rohan, Roifman, Chaim M., Schejter, Yael D., Kobbe, Robin, Hautala, Timo, Atschekzei, Faranaz, Schmidt, Reinhold E., Schröder, Claudia, Stepensky, Polina, Shadur, Bella, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Gonzalez-Granado, Luis Ignacio, Allende, Luis M., Shcherbina, Anna, Kuzmenko, Natalia, Zakharova, Victoria, Neves, João Farela, Svec, Peter, Fischer, Ute, Ip, Winnie, Bartsch, Oliver, Barış, Safa, Klein, Christoph, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Boztug, Kaan, Hirschmugl, Tatjana, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Alsina, Laia, Piquer-Gibert, Monica, Deyà-Martínez, Angela, Slade, Charlotte A., Aghamohammadi, Asghar, Abolhassani, Hassan, Hammarström, Lennart, Kuismin, Outi, Helminen, Merja, Freeman, Alexandra F., Cook, Matthew, Bakhtiar, Shahrzad, Christiansen, Mette, Cunningham-Rundles, Charlotte, Patel, Niraj C., Rae, William, Niehues, Tim, Brauer, Nina, Syrjänen, Jaana, Seppänen, Mikko R.J., Tuijnenburg, Paul, Warnatz, Klaus, and Grimbacher, Bodo
- Published
- 2020
- Full Text
- View/download PDF
9. Development and preliminary validation of the Anaphylaxis Quality of Life Scale for Adults (A-QOL-Adults)
- Author
-
Knibb, Rebecca, primary, Huissoon, Aarnoud, additional, Baretto, Richard, additional, Ekbote, Anjali, additional, Onyango-Odera, Sham, additional, Screti, Cassandra, additional, L, Kristina Newman, additional, and KRISHNA, MAMIDIPUDI THIRUMALA, additional
- Published
- 2024
- Full Text
- View/download PDF
10. A Retrospective Critical Analysis and Risk Stratification of Penicillin Allergy Delabeling in a UK Specialist Regional Allergy Service
- Author
-
Mohamed, Omar E., Beck, Sarah, Huissoon, Aarnoud, Melchior, Cathryn, Heslegrave, Jane, Baretto, Richard, Ekbote, Anjali, and Krishna, Mamidipudi Thirumala
- Published
- 2019
- Full Text
- View/download PDF
11. Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
- Author
-
Adhya, Zoe, Alachkar, Hana, Anantharachagan, Ariharan, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Browning, Michael, Brownlie, Mary, Burns, Siobhan, Chandra, Anita, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Dempster, John, Devlin, Lisa, Doffinger, Rainer, Drewe, Elizabeth, Edgar, David, Egner, William, El-Shanawany, Tariq, Gaspar, Bobby, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Hughes, Stephen, Huissoon, Aarnoud, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Millar, Hazel, Mistry, Anoop, Morrisson, Valerie, Murng, Sai, Nasir, Iman, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Richter, Alex, Samarghitean, Crina, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewall, Carrock, Shackley, Fiona, Simeoni, Ilenia, Smith, Kenneth G.C., Staples, Emily, Stauss, Hans, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Welch, Steve, Willcocks, Lisa, Workman, Sarita, Worth, Austen, Yeatman, Nigel, Yong, Patrick, Ashford, Sofie, Bradley, John, Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Ouwehand, Willem, Penkett, Christopher, Raymond, F Lucy, Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Martin, Jennifer, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Haimel, Matthias, Hu, Fengyuan, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, Yu, Ping, von Ziegenweldt, Julie, Furnell, Abigail, Mapeta, Rutendo, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Rayner-Matthews, Paula, Watt, Christopher, Tuijnenburg, Paul, Burns, Siobhan O., Jansen, Machiel H., Carss, Keren J., Biasci, Daniele, Kiani-Alikhan, Sorena, Longhurst, Hilary J., Seneviratne, Suranjith L., de Bree, Godelieve J., Tool, Anton T.J., van Leeuwen, Ester M.M., Ebberink, Eduard H.T.M., Meijer, Alexander B., Thrasher, Adrian J., Thaventhiran, James E., and Kuijpers, Taco W.
- Published
- 2018
- Full Text
- View/download PDF
12. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
- Author
-
Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cookson, Victoria, Cooper, Nichola, Corris, Paul, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Deshpande, Charu, Devlin, Lisa, Dewhurst, Eleanor, Dixon, Peter, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Flinter, Frances, Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Graf, Stefan, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Holden, Simon, Holder, Muriel, Holder, Susan, Hu, Fengyuan, Huis in’t Veld, Anna, Huissoon, Aarnoud, Humbert, Marc, Hurst, Jane, James, Roger, Jolles, Stephen, Josifova, Dragana, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kuijpers, Taco, Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lango-Allen, Hana, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Louka, Eleni, Machado, Rajiv, Ross, Rob Mackenzie, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Othman, Shokri, Ouwehand, Willem H., Papadia, Sofia, Park, Soo-Mi, Parker, Alasdair, Pasi, John, Patch, Chris, Paterson, Joan, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Rankin, Julia, Raymond, F. Lucy, Rayner-Matthews, Paula, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Rosser, Elisabeth, Roughley, Catherine, Roy, Noémi, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth G.C., Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, Vogt, Julie, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watt, Christopher, Webster, ndrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Woods, Geoff, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim, Yu, Ping, Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Penkett, Chris, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., and Maher, Eamonn R.
- Published
- 2018
- Full Text
- View/download PDF
13. Anaphylaxis and Clinical Utility of Real-World Measurement of Acute Serum Tryptase in UK Emergency Departments
- Author
-
Buka, Richard J., Knibb, Rebecca C., Crossman, Richard J., Melchior, Cathryn L., Huissoon, Aarnoud P., Hackett, Scott, Dorrian, Susan, Cooke, Matthew W., and Krishna, Mamidipudi T.
- Published
- 2017
- Full Text
- View/download PDF
14. British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders
- Author
-
Hurst, John R., Verma, Nisha, Lowe, David, Baxendale, Helen E., Jolles, Stephen, Kelleher, Peter, Longhurst, Hilary J., Patel, Smita Y., Renzoni, Elisabetta A., Sander, Clare R., Avery, Gerard R., Babar, Judith L., Buckland, Matthew S., Burns, Siobhan, Egner, William, Gompels, Mark M., Gordins, Pavels, Haddock, Jamanda A., Hart, Simon P., Hayman, Grant R., Herriot, Richard, Hoyles, Rachel K., Huissoon, Aarnoud P., Jacob, Joseph, Nicholson, Andrew G., Rassl, Doris M., Sargur, Ravishankar B., Savic, Sinisa, Seneviratne, Suranjith L., Sheaff, Michael, Vaitla, Prashantha M., Walters, Gareth I., Whitehouse, Joanna L., Wright, Penny A., and Condliffe, Alison M.
- Published
- 2017
- Full Text
- View/download PDF
15. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
- Author
-
Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cooper, Nichola, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Deshpande, Charu, Devlin, Lisa, Dewhurst, Eleanor, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Flinter, Frances, Fox, James C., Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Holden, Simon, Holder, Muriel, Holder, Susan, Hu, Fengyuan, Huissoon, Aarnoud, Humbert, Marc, Hurst, Jane, James, Roger, Jolles, Stephen, Josifova, Dragana, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Machado, Rajiv, Mackenzie, Rob, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Park, Soo-Mi, Parker, Alasdair, Pasi, John, Patch, Chris, Paterson, Joan, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Rankin, Julia, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Rosser, Elisabeth, Roughley, Catherine, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth, Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Tait, R. Campbell, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, Vogt, Julie, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Webster, Andrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim, Yu, Ping, Carss, Keren J., Hull, Sarah, Malka, Samantha, Plagnol, Vincent, Penkett, Christopher, Rizzo, Roberta, Wright, Genevieve, Scott, Richard H., Brady, Angela F., Henderson, Robert H.H., MacLaren, Robert E., Thompson, Dorothy A., Moore, Anthony T., and Webster, Andrew R.
- Published
- 2017
- Full Text
- View/download PDF
16. Prescribing Immunoglobulin Replacement Therapy for Patients with Non-classical and Secondary Antibody Deficiency: an Analysis of the Practice of Clinical Immunologists in the UK and Republic of Ireland
- Author
-
Edgar, John David M., Richter, Alex G., Huissoon, Aarnoud P., Kumararatne, Dinakantha S., Baxendale, Helen E., Bethune, Claire A., Garcez, Tomaz, Misbah, Siraj A., Sorensen, Ricardo U., and United Kingdom Primary Immunodeficiency Network (UKPIN) Immunoglobulin Decision to Treat Study Group
- Published
- 2018
- Full Text
- View/download PDF
17. The efficacy and safety of systemic corticosteroids as first line treatment for granulomatous lymphocytic interstitial lung disease
- Author
-
Immuno/reuma onderzoek 1 (Vastert), Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Smits, Bas, Goldacker, Sigune, Seneviratne, Suranjith, Malphettes, Marion, Longhurst, Hilary, Mohamed, Omar E., Witt-Rautenberg, Carla, Leeman, Lucy, Schwaneck, Eva, Raymond, Isabelle, Meghit, Kilifa, Uhlmann, Annette, Winterhalter, Christine, van Montfrans, Joris, Klima, Marion, Workman, Sarita, Fieschi, Claire, Lorenzo, Lorena, Boyle, Sonja, Onyango-Odera, Shamin, Price, Suzanne, Schmalzing, Marc, Aurillac, Valerie, Prasse, Antje, Hartmann, Ieneke, Meerburg, Jennifer J., Kemner-van de Corput, Mariette, Tiddens, Harm, Grimbacher, Bodo, Kelleher, Peter, Patel, Smita Y., Korganow, Anne Sophie, Viallard, Jean Francois, Tony, Hans Peter, Bethune, Claire, Schulze-Koops, Hendrik, Witte, Torsten, Huissoon, Aarnoud, Baxendale, Helen, Grigoriadou, Sofia, Oksenhendler, Eric, Burns, Siobhan O., Warnatz, Klaus, Immuno/reuma onderzoek 1 (Vastert), Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Smits, Bas, Goldacker, Sigune, Seneviratne, Suranjith, Malphettes, Marion, Longhurst, Hilary, Mohamed, Omar E., Witt-Rautenberg, Carla, Leeman, Lucy, Schwaneck, Eva, Raymond, Isabelle, Meghit, Kilifa, Uhlmann, Annette, Winterhalter, Christine, van Montfrans, Joris, Klima, Marion, Workman, Sarita, Fieschi, Claire, Lorenzo, Lorena, Boyle, Sonja, Onyango-Odera, Shamin, Price, Suzanne, Schmalzing, Marc, Aurillac, Valerie, Prasse, Antje, Hartmann, Ieneke, Meerburg, Jennifer J., Kemner-van de Corput, Mariette, Tiddens, Harm, Grimbacher, Bodo, Kelleher, Peter, Patel, Smita Y., Korganow, Anne Sophie, Viallard, Jean Francois, Tony, Hans Peter, Bethune, Claire, Schulze-Koops, Hendrik, Witte, Torsten, Huissoon, Aarnoud, Baxendale, Helen, Grigoriadou, Sofia, Oksenhendler, Eric, Burns, Siobhan O., and Warnatz, Klaus
- Published
- 2023
18. Case report: Clearance of longstanding, immune-deficiency-associated, vaccine-derived polio virus infection following remdesivir therapy for chronic SARS-CoV-2 infection
- Author
-
Bermingham, William Hywel, primary, Canning, Benjamin, additional, Wilton, Thomas, additional, Kidd, Michael, additional, Klapsa, Dimitra, additional, Majumdar, Manasi, additional, Sooriyakumar, Kavitha, additional, Martin, Javier, additional, and Huissoon, Aarnoud P., additional
- Published
- 2023
- Full Text
- View/download PDF
19. The impact of anaphylaxis on the quality of life and mental health of adults
- Author
-
Knibb, Rebecca C., primary, Huissoon, Aarnoud P., additional, Baretto, Richard, additional, Ekbote, Anjali, additional, Onyango‐Odera, Sham, additional, Screti, Cassandra, additional, Newman, Kristina L., additional, and Krishna, Mamidipudi T., additional
- Published
- 2022
- Full Text
- View/download PDF
20. GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
- Author
-
Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Adlard, Julian, Ahmed, Munaza, Aitman, Tim, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Astle, William, Attwood, Anthony, Babbs, Chris, Bakchoul, Tamam, Bariana, Tadbir, Barwell, Julian, Bennett, David, Bentley, David, Bierzynska, Agnieszka, Biss, Tina, Bleda, Marta, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Burns, Siobhan, Burren, Oliver, Calleja, Paul, Carr-White, Gerald, Carss, Keren, Casey, Ruth, Caulfield, Mark, Chambers, John, Chambers, Jennifer, Cheng, Floria, Chinnery, Patrick F., Christian, Martin, Church, Colin, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor, Collins, Janine, Collins, Peter, Colombo, Camilla, Condliffe, Robin, Cook, Stuart, Cook, Terry, Cooper, Nichola, Corris, Paul, Crisp-Hihn, Abigail, Curry, Nicola, Danesino, Cesare, Daniels, Matthew, Daugherty, Louise, Davis, John, Deevi, Sri V. V., Dent, Timothy, Dewhurst, Eleanor, Dixon, Peter, Downes, Kate, Drazyk, Anna, Drewe, Elizabeth, Dutt, Tina, Edgar, David, Edwards, Karen, Egner, William, Erber, Wendy, Erwood, Marie, Estiu, Maria C., Evans, Gillian, Evans, Dafydd Gareth, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Fletcher, Debra, Fox, James, Frary, Amy, French, Courtney, Freson, Kathleen, Frontini, Mattia, Gale, Daniel, Gall, Henning, Geoghegan, Claire, Gerighty, Terry, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, Simon, Gilmour, Kimberley, Girerd, Barbara, Goddard, Sarah, Gomez, Keith, Gordins, Pavels, Gosal, David, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, William, Haimel, Matthias, Hall, Matthew, Hanson, Helen, Harkness, Kirsty, Harper, Andrew, Harris, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Hoffmann, Jonathan, Horvath, Rita, Houweling, Arjan, Howard, Luke, Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud, Humbert, Marc, Humphray, Sean, Hunter, Sarah, Hurles, Matthew, Izatt, Louise, James, Roger, Johnson, Sally, Jolles, Stephen, Jolley, Jennifer, Jurkute, Neringa, Kasanicki, Mary, Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kiely, David, Kingston, Nathalie, Klima, Robert, Kostadima, Myrto, Kovacs, Gabor, Koziell, Ania, Kreuzhuber, Roman, Kuijpers, Taco, Kumar, Ajith, Kumararatne, Dinakantha, Kuria, Manju, Laffa, Michael, Lalloo, Fiona, Lamber, Michele, Alle, Hana Lango, Lawrie, Allan, Layton, Mark, Lentaigne, Claire, Levine, Adam, Linger, Rachel, Longhurst, Hilary, Louka, Eleni, Ross, Robert MacKenzie, Madan, Bella, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Mapeta, Rutendo, Marchbank, Kevin, Marks, Stephen, Markus, Hugh S., Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark, Meacham, Stuart, Mead, Adam, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn, Moledina, Shahin, Montani, David, Moor, Tony, Morrell, Nicholas, Muir, Keith, Mumford, Andrew, Newnham, Michael, O'Sullivan, Jennifer, Obaji, Samya, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Ormondroy, Elizabeth, Ouwehan, Willem, Papadi, Sofia, Park, Soo-Mi, Parry, David, Paterson, Joan, Peacock, Andrew, Peden, John, Peerlinck, Kathelijne, Penkett, Christopher, Pepke-Zaba, Joanna, Petersen, Romina, Pyle, Angela, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthew, Paula, Rees, Christine, Rendon, Augusto, Renton, Tara, Rice, Andrew, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Roughley, Catherine, Roy, Noemi, Sadeghi-Alavijeh, Omid, Saleem, Moin, Samani, Nilesh, Sanchis-Juan, Alba, Sargur, Ravishankar, Satchell, Simon, Savic, Sinisa, Scelsi, Laura, Schulman, Sol, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, Carrock, Seyres, Denis, Shapiro, Susie, Sharmardina, Olga, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael, Sivapalaratnam, Suthesh, Skytte, Anne-Bine, Smith, Katherine, Smith, Kenneth G. C., Snape, Katie, Soubrier, Florent, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Swietlik, Emilia, Tait, R. Campbell, Talks, Kate, Tan, Rhea, Thaventhiran, James, Themistocleous, Andreas, Thomas, Moira, Thomson, Kate, Thrasher, Adrian, Thys, Chantal, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Vale, Tom, Van Geet, Chris, Van Zuydam, Natalie, Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Waisfisz, Quintin, Walker, Suellen, Ware, James, Watkins, Hugh, Watt, Christopher, Webster, Andrew, Wei, Wei, Welch, Steven, Wessels, Julie, Westbury, Sarah, Westwood, John-Paul, Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Wong, Edwin, Wood, Nicholas, Wood, Yvette, Woods, Geoff, Woodward, Emma, Wort, Stephen, Worth, Austen, Yates, Katherine, Yong, Patrick, Young, Tim, Yu, Ping, Yu-Wai-Man, Patrick, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Pediatrics, Foundation for the National Institutes of Health (FNIH), The Academy of Medical Sciences, British Heart Foundation, Imperial College Healthcare NHS Trust- BRC Funding, Paediatric Infectious Diseases / Rheumatology / Immunology, and ARD - Amsterdam Reproduction and Development
- Subjects
VARIANT ,LOCI ,INTEGRATIVE ANALYSIS ,General Physics and Astronomy ,Cholestasis, Intrahepatic ,TRIGLYCERIDE LEVELS ,DISEASE ,General Biochemistry, Genetics and Molecular Biology ,Bile Acids and Salts ,Pregnancy ,Humans ,MUTATION ,Science & Technology ,Multidisciplinary ,Genomics England Research Consortium Collaborators ,Infant, Newborn ,NIHR BioResource ,General Chemistry ,GLUCOCORTICOID-RECEPTOR ,Multidisciplinary Sciences ,ALKALINE SPHINGOMYELINASE ,Pregnancy Complications ,INSIGHTS ,Science & Technology - Other Topics ,Premature Birth ,Female ,FASTING GLUCOSE ,Genome-Wide Association Study - Abstract
Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5-2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility. ispartof: NATURE COMMUNICATIONS vol:13 issue:1 ispartof: location:England status: published
- Published
- 2022
- Full Text
- View/download PDF
21. Impact of vaccination on hospitalization and mortality from COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience
- Author
-
Shields, Adrian M., primary, Tadros, Susan, additional, Al-Hakim, Adam, additional, Nell, Jeremy M., additional, Lin, Me Me Nay, additional, Chan, Michele, additional, Goddard, Sarah, additional, Dempster, John, additional, Dziadzio, Magdalena, additional, Patel, Smita Y., additional, Elkalifa, Shuayb, additional, Huissoon, Aarnoud, additional, Duncan, Christopher J. A., additional, Herwadkar, Archana, additional, Khan, Sujoy, additional, Bethune, Claire, additional, Elcombe, Suzanne, additional, Thaventhiran, James, additional, Klenerman, Paul, additional, Lowe, David M., additional, Savic, Sinisa, additional, Burns, Siobhan O., additional, and Richter, Alex G., additional
- Published
- 2022
- Full Text
- View/download PDF
22. The impact of anaphylaxis on the quality of life and mental health of adults
- Author
-
Knibb, Rebecca, primary, Huissoon, Aarnoud, additional, Baretto, Richard, additional, Ekbote, Anjali, additional, Onyango-Odera, Sham, additional, Screti, Cassandra, additional, L, Kristina Newman, additional, and KRISHNA, MAMIDIPUDI THIRUMALA, additional
- Published
- 2022
- Full Text
- View/download PDF
23. Subcutaneous and sublingual immunotherapy for seasonal allergic rhinitis: A systematic review and indirect comparison
- Author
-
Dretzke, Janine, Meadows, Angela, Novielli, Nicola, Huissoon, Aarnoud, Fry-Smith, Anne, and Meads, Catherine
- Published
- 2013
- Full Text
- View/download PDF
24. Unexplained abnormal liver function in patients with primary antibody deficiency: could it be chronic hepatitis E infection?
- Author
-
Mohamed, Omar E, Jones, Julie, Osman, Husam, and Huissoon, Aarnoud P
- Published
- 2018
- Full Text
- View/download PDF
25. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
- Author
-
Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D., Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G., Lawrie, Allan, Machado, Rajiv, MacKenzie Ross, Robert, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Noordegraaf, Anton Vonk, Wilkins, Martin R., Wort, Stephen J., Wharton, John, Gräf, Stefan, Morrell, Nicholas W., Aitman, Timothy, Bennett, David, Caulfield, Mark, Chinnery, Patrick, Gale, Daniel, Koziell, Ania, Kuijpers, Taco W, Laffan, Michael A, Maher, Eamonn, Markus, Hugh S, Ouwehand, Willem H, Perry, David, Raymond, F Lucy, Roberts, Irene, Smith, Kenneth, Thrasher, Adrian, Watkins, Hugh, Williamson, Catherine, Woods, Geoffrey, Ashford, Sofie, Bradley, John R, Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Ouwehand, Willem H, Penkett, Christopher J, Raymond, F Lucy, Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Ashford, Sofie, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Stark, Hannah, Allsup, David, Austin, Steve, Bakchoul, Tamam, Bariana, Tadbir K, Bolton-Maggs, Paula, Chalmers, Elizabeth, Collins, Peter, Erber, Wendy N, Everington, Tamara, Favier, Remi, Freson, Kathleen, Furie, Bruce, Gattens, Michael, Gomez, Keith, Greene, Daniel, Greinacher, Andreas, Hart, Daniel, Heemskerk, Johan WM, Henskens, Yvonne, Kazmi, Rashid, Keeling, David, Kelly, Anne M, Laffan, Michael A, Lambert, Michele P, Lentaigne, Claire, Liesner, Ri, Mangles, Sarah, Mathias, Mary, Millar, Carolyn M, Mumford, Andrew, Nurden, Paquita, Ouwehand, Willem H, Papadia, Sofia, Payne, Jeanette, Pasi, John, Perry, David J, Peerlinck, Kathelijne, Richards, Michael, Rondina, Matthew, Roughley, Catherine, Schulman, Sol, Schulze, Harald, Scully, Marie, Sivapalaratnam, Suthesh, Tait, R Campbell, Talks, Kate, Thachil, Jecko, Turro, Ernest, Toh, Cheng-Hock, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q, Westbury, Sarah, Furnell, Abigail, Mapeta, Rutendo, Simeoni, Ilenia, Staines, Simon, Stephens, Jonathan, Stirrups, Kathleen, Whitehorn, Deborah, Watt, Christopher, Attwood, Antony, Daugherty, Louise, Deevi, Sri VV, Halmagyi, Csaba, Hu, Fengyuan, James, Roger, Matser, Vera, Meacham, Stuart, Megy, Karyn, Penkett, Christopher J, Stirrups, Kathleen, Titterton, Catherine, Tuna, Salih, Yu, Ping, von Ziegenweldt, Julie, Astle, William, Carss, Keren, Greene, Daniel, Lango-Allen, Hana, Turro, Ernest, Astle, William, Greene, Daniel, Richardson, Sylvia, Turro, Ernest, Calleja, Paul, Rankin, Stuart, Turek, Wojciech, Bryson, Christine, Anderson, Julie, Fletcher, Debra, McJannet, Coleen, Stock, Sophie, Young, Tim, Wassmer, Evangeline, Sohal, Aman, Santra, Saikat, Vogt, Julie, Chitre, Manali, Krishnakumar, Deepa, Ambegaonkar, Gautum, Maw, Anna, Armstrong, Ruth, Park, Soo-Mi, Mehta, Sarju, Paterson, Joan, Carmichael, Jenny, Allen, Louise, Hensiek, Anke, Firth, Helen, Stein, Penelope, Deegan, Patrick, Doffinger, Rainer, Parker, Alasdair, Bitner-Glindzicz, Maria, Scott, Richard, Hurst, Jane, Rosser, Elisabeth, Lees, Melissa, Clement, Emma, Henderson, Robert, Thompson, Dorothy, Gardham, Alice, Gissen, Paul, Josifova, Dragana, Thomas, Ellen, Patch, Chris, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Canham, Natalie, Wakeling, Emma, Holder, Susan, Ghali, Neeti, Brady, Angie, Clowes, Virginia, MacLaren, Robert, Webster, Andrew, Moore, Anthony, Arno, Gavin, Michaelides, Michel, Rankin, Julia, Kurian, Manju, Murphy, Elaine, Carss, Keren, Sanchis-Juan, Alba, Erwood, Marie, Dewhurst, Eleanor, Grozeva, Detelina, Raymond, F Lucy, Reid, Evan, Woods, Geoff, Tischkowitz, Marc, Sandford, Richard, Ali, Sonia, Creaser-Myers, Amanda, Cookson, Victoria, DaCosta, Rosa, Dormand, Natalie, Ghataorhe, Pavandeep K, Greenhalgh, Alan, Huis in’t Veld, Anna, Kennedy, Fiona, Mackenzie Ross, Rob, Masati, Larahmie, Meehan, Sharon, Othman, Shokri, Pollock, Val, Polwarth, Gary, Rhodes, Christopher J, Rue-Albrecht, Kevin, Schotte, Gwen, Shipley, Debbie, Tan, Yvonne, Wanjiku, Ivy, Wort, John, Smith, Kenneth, Kuijpers, Taco, Thrasher, Adrian, Thaventhiran, James, Brown, Matthew, Lango Allen, Hana, Simeoni, Ilenia, Staples, Emily, Samarghitean, Crina, Alachkar, Hana, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Chandra, Anita, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Doffinger, Rainer, Drewe, Elizabeth, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jolles, Stephen, Kelleher, Peter, Kumararatne, Dinakantha, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Murng, Sai, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Richter, Alex, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewell, Carrock, Stauss, Hans, Thomas, Moira, Welch, Steve, Willcocks, Lisa, Yeatman, Nigel, and Yong, Patrick
- Published
- 2017
- Full Text
- View/download PDF
26. Diagnostic application of patent blue V in sentinel lymph node biopsy for breast cancer - Is it time for a change?
- Author
-
Vidya, Raghavan, Athwal, Ruvinder, Huissoon, Aarnoud, Baretto, Richard, and Krishna, Mamidipudi Thirumala
- Subjects
Lymph node biopsy -- Usage ,Breast cancer -- Diagnosis ,Morbidity ,Iso-sulfan blue ,Methylene blue ,Health - Abstract
Byline: Raghavan. Vidya, Ruvinder. Athwal, Aarnoud. Huissoon, Richard. Baretto, Mamidipudi. Thirumala Krishna Sentinel lymph node biopsy (SLNB) was introduced in the 1990s, as a minimally invasive procedure for staging the [...]
- Published
- 2019
27. Use and interpretation of diagnostic vaccination in primary immunodeficiency: A working group report of the Basic and Clinical Immunology Interest Section of the American Academy of Allergy, Asthma & Immunology
- Author
-
Orange, Jordan S., Ballow, Mark, Stiehm, E. Richard, Ballas, Zuhair K., Chinen, Javier, De La Morena, Maite, Kumararatne, Dinakantha, Harville, Terry O., Hesterberg, Paul, Koleilat, Majed, McGhee, Sean, Perez, Elena E., Raasch, Jason, Scherzer, Rebecca, Schroeder, Harry, Seroogy, Christine, Huissoon, Aarnoud, Sorensen, Ricardo U., and Katial, Rohit
- Published
- 2012
- Full Text
- View/download PDF
28. The impact of anaphylaxis on the quality of life and mental health of adults
- Author
-
Knibb, Rebecca C., Huissoon, Aarnoud P., Baretto, Richard, Ekbote, Anjali, Onyango‐Odera, Sham, Screti, Cassandra, Newman, Kristina L., Krishna, Mamidipudi T., Knibb, Rebecca C., Huissoon, Aarnoud P., Baretto, Richard, Ekbote, Anjali, Onyango‐Odera, Sham, Screti, Cassandra, Newman, Kristina L., and Krishna, Mamidipudi T.
- Published
- 2022
29. Risk factors for systemic reactions to bee venom in British beekeepers
- Author
-
Richter, Alex G., Nightingale, Peter, Huissoon, Aarnoud P., and Krishna, Mamidipudi T.
- Published
- 2011
- Full Text
- View/download PDF
30. Increased seroprevalence and improved antibody responses following third primary SARS-CoV-2 immunisation: an update from the COV-AD study
- Author
-
Shields, Adrian M, primary, Faustini, Sian E., additional, Hill, Harriet J., additional, Al-Taei, Saly, additional, Tanner, Chloe, additional, Ashford, Fiona, additional, Workman, Sarita, additional, Moreira, Fernando, additional, Verma, Nisha, additional, Wagg, Hollie, additional, Heritage, Gail, additional, Campton, Naomi, additional, Stamataki, Zania, additional, Drayson, Mark T., additional, Klenerman, Paul, additional, Thaventhiran, James E. D., additional, Elkhalifa, Shuayb, additional, Goddard, Sarah, additional, Johnston, Sarah, additional, Huissoon, Aarnoud, additional, Bethune, Claire, additional, Elcombe, Suzanne, additional, Lowe, David M., additional, Patel, Smita Y., additional, Savic, Sinisa, additional, Richter, Alex G., additional, Burns, Siobhan O., additional, and Consortium, COVAD, additional
- Published
- 2022
- Full Text
- View/download PDF
31. Case report: Clearance of longstanding, immunedeficiency-associated, vaccinederived polio virus infection following remdesivir therapy for chronic SARS-CoV-2 infection.
- Author
-
Bermingham, William Hywel, Canning, Benjamin, Wilton, Thomas, Kidd, Michael, Klapsa, Dimitra, Majumdar, Manasi, Sooriyakumar, Kavitha, Martin, Javier, and Huissoon, Aarnoud P.
- Subjects
POLIO ,SARS-CoV-2 ,VIRUS diseases ,COMMON variable immunodeficiency ,RNA replicase ,REMDESIVIR - Abstract
The global polio eradication campaign has had remarkable success in reducing wildtype poliovirus infection, largely built upon the live attenuated Sabin oral poliovirus vaccine. Whilst rare, vaccine poliovirus strainsmay cause infection and subsequently revert to a neurovirulent type, termed vaccine-derived poliovirus (VDPV). Persistent, vaccine derived infection may occur in an immunocompromised host (iVDPV), where it is a recognised complication following receipt of the Sabin vaccine. This has significant implications for the global polio eradication campaign and there is currently no agreed global strategy to manage such patients. Here we describe a case of a 50-year-old man with common variable immune deficiency, persistently infected with a neurovirulent vaccine-derived type 2 poliovirus following vaccination in childhood. iVDPV infection had proven resistant to multiple prior attempts at treatment with human breast milk, ribavirin and oral administration of a normal human pooled immunoglobulin product. His iVDPV infection subsequently resolved after 12 days treatment with remdesivir, an adenosine analogue prodrug that is an inhibitor of viral RNA-dependent RNA polymerase, administered as treatment for a prolonged, moderate severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. iVDPV from the patient, isolated prior to treatment, was subsequently demonstrated to be sensitive to remdesivir in vitro. Based on the observationsmade in this case, and the mechanistic rationale for use with iVDPV, there is strong justification for further clinical studies of remdesivir treatment as a potentially curative intervention in patients with iVDPV infection. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
32. Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK
- Author
-
Shields, Adrian M, primary, Anantharachagan, Ariharan, additional, Arumugakani, Gururaj, additional, Baker, Kenneth, additional, Bahal, Sameer, additional, Baxendale, Helen, additional, Bermingham, William, additional, Bhole, Malini, additional, Boules, Evon, additional, Bright, Philip, additional, Chopra, Charu, additional, Cliffe, Lucy, additional, Cleave, Betsy, additional, Dempster, John, additional, Devlin, Lisa, additional, Dhalla, Fatima, additional, Diwakar, Lavanya, additional, Drewe, Elizabeth, additional, Duncan, Christopher, additional, Dziadzio, Magdalena, additional, Elcombe, Suzanne, additional, Elkhalifa, Shuayb, additional, Gennery, Andrew, additional, Ghanta, Harichandrana, additional, Goddard, Sarah, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hayman, Grant, additional, Herriot, Richard, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Jain, Rashmi, additional, Jolles, Stephen, additional, Johnston, Sarah, additional, Khan, Sujoy, additional, Laffan, James, additional, Lane, Peter, additional, Leeman, Lucy, additional, Lowe, David M, additional, Mahabir, Shanti, additional, Lochlainn, Dylan James Mac, additional, McDermott, Elizabeth, additional, Misbah, Siraj, additional, Moghaddas, Fiona, additional, Morsi, Hadeil, additional, Murng, Sai, additional, Noorani, Sadia, additional, O’Brien, Rachael, additional, Patel, Smita, additional, Price, Arthur, additional, Rahman, Tasneem, additional, Seneviratne, Suranjith, additional, Shrimpton, Anna, additional, Stroud, Catherine, additional, Thomas, Moira, additional, Townsend, Katie, additional, Vaitla, Prashantha, additional, Verma, Nisha, additional, Williams, Anthony, additional, Burns, Siobhan O, additional, Savic, Sinisa, additional, and Richter, Alex G, additional
- Published
- 2022
- Full Text
- View/download PDF
33. SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings From The COV-AD Study
- Author
-
Shields, Adrian M, primary, Faustini, Sian E., additional, Hill, Harriet J., additional, Al-Taei, Saly, additional, Tanner, Chloe, additional, Ashford, Fiona, additional, Workman, Sarita, additional, Moreira, Fernando, additional, Verma, Nisha, additional, Wagg, Hollie, additional, Heritage, Gail, additional, Campton, Naomi, additional, Stamataki, Zania, additional, Klenerman, Paul, additional, Goddard, Sarah, additional, Johnston, Sarah, additional, Huissoon, Aarnoud, additional, Bethune, Claire, additional, Elcombe, Suzanne, additional, Lowe, David M., additional, Patel, Smita Y., additional, Savic, Sinisa, additional, Burns, Siobhan O., additional, Richter, Alex G., additional, and Consortium, COV-AD, additional
- Published
- 2022
- Full Text
- View/download PDF
34. Whole-genome sequencing of patients with rare diseases in a national health system
- Author
-
Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V.V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B.A., Saleem, Moin A., Smith, Kenneth G.C., Stark, Hannah, Tan, Rhea Y.Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David J., Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen E., Beales, Phil L., Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Black, Graeme C., Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian J., Boyce, Sara, Bradley, John R., Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew C., Browning, Michael J., Buchan, Rachel J., Buckland, Matthew S., Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan O., Burrows, Nigel, Campbell, Carolyn, Carr-White, Gerald, Casey, Ruth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Cheah, Calvin, Cheng, Floria, Chitre, Manali, Christian, Martin T., Church, Colin, Clayton-Smith, Jill, Cleary, Maureen, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine, Collins, Peter W., Colombo, Camilla, Compton, Cecilia J., Condliffe, Robin, Cook, Stuart, Cook, H. Terence, Cooper, Nichola, Corris, Paul A A., Furnell, Abigail, Cunningham, Fiona, Curry, Nicola S., Cutler, Antony J., Daniels, Matthew J., Dattani, Mehul, Daugherty, Louise C., Davis, John, De Soyza, Anthony, Dent, Timothy, Deshpande, Charu, Dewhurst, Eleanor F., Douzgou, Sofia, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edgar, J. David M., Edwards, Karen, Egner, William, Ekani, Melanie N., Elliott, Perry, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Fassihi, Hiva, Favier, Remi, Findhammer, Jack, Fletcher, Debra, Flinter, Frances A., Floto, R. Andres, Fowler, Tom, Fox, James, Frary, Amy J., French, Courtney E., Freson, Kathleen, Gall, Henning, Ganesan, Vijeya, Gattens, Michael, Geoghegan, Claire, Gerighty, Terence S.A., Gharavi, Ali G., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Gibbs, J. Simon R., Gibson, Kate, Gilmour, Kimberly C., Girerd, Barbara, Gleadall, Nicholas S., Goddard, Sarah, Goldstein, David B., Gomez, Keith, Gordins, Pavels, Gosal, David, Graham, Jodie, Grassi, Luigi, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell J., Grozeva, Detelina, Gurnell, Mark, Hackett, Scott, Hadinnapola, Charaka, Hague, William M., Hague, Rosie, Hall, Matthew, Hanson, Helen L., Haque, Eshika, Harkness, Kirsty, Harper, Andrew R., Harris, Claire L L., Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Herwadkar, Archana, Hoffman, Jonathan, Holden, Simon, Horvath, Rita, Houlden, Henry, Houweling, Arjan C C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud P., Humbert, Marc, Hunter, Sarah, Hurles, Matthew, Irving, Melita, Izatt, Louise, Johnson, Sally A., Jolles, Stephen, Jolley, Jennifer, Josifova, Dragana, Jurkute, Neringa, Karten, Tim, Karten, Johannes, Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kelly, Anne M., Kelsall, Wilf, Kempster, Carly, Kiely, David G., Kingston, Nathalie, Klima, Robert, Koelling, Nils, Kostadima, Myrto, Kovacs, Gabor, Kreuzhuber, Roman, Kuijpers, Taco W., Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju A., Lalloo, Fiona, Lambert, Michele, Lawrie, Allan, Layton, D. Mark, Lench, Nick, Lentaigne, Claire, Lester, Tracy, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Lyons, Paul A., Machado, Rajiv D., MacKenzie Ross, Robert V., Madan, Bella, Maimaris, Jesmeen, Malka, Samantha, Mangles, Sarah, Marchbank, Kevin J., Marks, Stephen, Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McKinney, Harriet, McMahon, Aoife, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Mehta, Sarju G G., Michaelides, Michel, Millar, Carolyn, Mohammed, Shehla N., Moledina, Shahin, Montani, David, Moore, Anthony T., Mozere, Monika, Muir, Keith W., Nemeth, Andrea H., Newman, William G., Newnham, Michael, Noorani, Sadia, Nurden, Paquita, O’Sullivan, Jennifer, Obaji, Samya, Odhams, Chris, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Oram, S. Helen, Ouwehand, Willem H., Palles, Claire, Papadia, Sofia, Park, Soo Mi, Parry, David, Patel, Smita, Paterson, Joan, Peacock, Andrew, Pearce, Simon H H., Peden, John, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Petersen, Romina, Pilkington, Clarissa, Poole, Kenneth E.S., Prathalingam, Radhika, Psaila, Bethan, Pyle, Angela, Quinton, Richard, Rahman, Shamima, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthews, Paula J., Rees, Christine, Renton, Tara, Rhodes, Christopher J., Rice, Andrew S.C., Richter, Alex, Robert, Leema, Rogers, Anthony, Rose, Sarah J., Ross-Russell, Robert, Roughley, Catherine, Roy, Noemi B. A, Ruddy, Deborah M., Sadeghi-Alavijeh, Omid, Samani, Nilesh, Samarghitean, Crina, Sargur, Ravishankar B., Sarkany, Robert N., Satchell, Simon, Savic, Sinisa, Sayer, John A., Sayer, Genevieve, Scelsi, Laura, Schaefer, Andrew M., Schulman, Sol, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sen, Arjune, Sewell, W. A.Carrock, Seyres, Denis, Shah, Neil, Shapiro, Susan E., Shaw, Adam C., Short, Patrick J., Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael A A., Sims, Matthew C., Sivapalaratnam, Suthesh, Smedley, Damian, Smith, Katherine R., Snape, Katie, Soranzo, Nicole, Soubrier, Florent, Southgate, Laura, Spasic-Boskovic, Olivera, Staines, Simon, Staples, Emily, Steward, Charles, Stirrups, Kathleen E., Stuckey, Alex, Suntharalingam, Jay, Swietlik, Emilia M., Syrris, Petros, Tait, R. Campbell, Talks, Kate, Tate, Katie, Taylor, John M., Taylor, Jenny C., Thaventhiran, James E., Thomas, Ellen, Thomas, David, Thomas, Moira J., Thomas, Patrick, Thomson, Kate, Threadgold, Glen, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tolhuis, Bas, Tomlinson, Ian P., Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Treadaway, Paul, Trembath, Richard, Turek, Wojciech, Twiss, Philip, Vale, Tom, Geet, Chris Van, Zuydam, Natalie van, Vandekuilen, Maarten, Vandersteen, Anthony M., Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Vonk Noordegraaf, Anton, Wagner, Annette, Waisfisz, Quinten, Walker, Suellen M., Walker, Neil, Walter, Klaudia, Ware, James S., Watt, Christopher, Wedderburn, Lucy, Wei, Wei, Welch, Steven B., Wessels, Julie, Westbury, Sarah K., Westwood, John Paul, Wharton, John, Whitehorn, Deborah, Wilkie, Andrew O. M, Wilson, Brian T., Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R R., Wort, Stephen J., Worth, Austen, Wright, Michael, Yates, Katherine, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, University of Cambridge [UK] (CAM), John Wyeth & Brother Limited, Medical Research Council (MRC), Wellcome Trust, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Landsteiner Laboratory, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, and Project, NIHR BioResource for the 100,000 Genomes
- Subjects
0301 basic medicine ,Erythrocytes ,Internationality ,Databases, Factual ,National Health Programs ,[SDV]Life Sciences [q-bio] ,Disease ,VARIANTS ,Genome ,State Medicine ,NIHR BioResource for the 100,000 Genomes Project ,0302 clinical medicine ,Medicine ,GATA1 Transcription Factor ,Genetics ,Multidisciplinary ,Translational bioinformatics ,ASSOCIATION ,3. Good health ,Multidisciplinary Sciences ,Phenotype ,030220 oncology & carcinogenesis ,disease genetics ,Medical genetics ,Science & Technology - Other Topics ,Receptors, Thrombopoietin ,medicine.medical_specialty ,General Science & Technology ,Quantitative Trait Loci ,Genomics ,Computational biology ,Biology ,DIAGNOSIS ,computational biology and bioinformatics ,Actin-Related Protein 2-3 Complex ,Article ,LRBA ,LINKS ,03 medical and health sciences ,Rare Diseases ,Humans ,Alleles ,Adaptor Proteins, Signal Transducing ,Whole genome sequencing ,National health ,Science & Technology ,Whole Genome Sequencing ,MUTATIONS ,business.industry ,THROMBOCYTOPENIA ,United Kingdom ,MACROTHROMBOCYTOPENIA ,genetics research ,030104 developmental biology ,business ,Rare disease - Abstract
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
- Published
- 2021
- Full Text
- View/download PDF
35. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
- Author
-
Thalhammer, Julian, primary, Kindle, Gerhard, additional, Nieters, Alexandra, additional, Rusch, Stephan, additional, Seppänen, Mikko R.J., additional, Fischer, Alain, additional, Grimbacher, Bodo, additional, Edgar, David, additional, Buckland, Matthew, additional, Mahlaoui, Nizar, additional, Ehl, Stephan, additional, Boztug, Kaan, additional, Brunner, Juergen, additional, Demel, Ulrike F., additional, Förster-Waldl, Elisabeth, additional, Gasteiger, Lukas M., additional, Göschl, Lisa, additional, Kojić, Marina, additional, Schroll, Andrea, additional, Seidel, Markus G., additional, Wintergerst, Uwe, additional, Wisgrill, Lukas, additional, Sharapova, Svetlana O., additional, Goffard, Jean-Christophe, additional, Kerre, Tessa, additional, Meyts, Isabelle, additional, Roosens, Fine, additional, Smet, Julie, additional, Haerynck, Filomeen, additional, Eric, Zelimir Pavle, additional, Milenova, Veneta, additional, Gagro, Alenka, additional, Richter, Darko, additional, Chovancova, Zita, additional, Hlavackova, Eva, additional, Litzman, Jiri, additional, Milota, Tomas, additional, Sediva, Anna, additional, Elaziz, Dalia Abd, additional, Alkady, Radwa Salaheldin, additional, El Sayed El Hawary, Rabab, additional, Eldash, Alia S., additional, Galal, Nermeen, additional, Lotfy, Sohilla, additional, Meshaal, Safa S., additional, Reda, Shereen M., additional, Sobh, Ali, additional, Elmarsafy, Aisha, additional, Brosselin, Pauline, additional, Courteille, Virginie, additional, De Vergnes, Nathalie, additional, Kracker, Sven, additional, Pergent, Martine, additional, Randrianomenjanahary, Philippe, additional, Ahrenstorf, Gerrit, additional, Albert, Michael H., additional, Ankermann, Tobias, additional, Atschekzei, Faranaz, additional, Baumann, Ulrich, additional, Becker, Benjamin C., additional, Behrends, Uta, additional, Belohradsky, Bernd H., additional, Biegner, Anika-Kerstin, additional, Binder, Nadine, additional, Bode, Sebastian F.N., additional, Boesecke, Christoph, additional, Boetticher, Benedikt, additional, Borte, Michael, additional, Borte, Stephan, additional, Classen, Carl Friedrich, additional, Dirks, Johannes, additional, Dückers, Gregor, additional, El-Helou, Sabine, additional, Ernst, Diana, additional, Fasshauer, Maria, additional, Fecker, Gisela, additional, Felgentreff, Kerstin, additional, Foell, Dirk, additional, Ghosh, Sujal, additional, Girschick, Hermann J., additional, Goldacker, Sigune, additional, Graf, Norbert, additional, Graf, Dagmar, additional, Greil, Johann, additional, Hanitsch, Leif Gunnar, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heine, Sabine I., additional, Henes, Joerg C., additional, Hoenig, Manfred, additional, Holzer, Ursula, additional, Holzinger, Dirk, additional, Horneff, Gerd, additional, Hundsdoerfer, Patrick, additional, Jablonka, Alexandra, additional, Jakoby, Donate, additional, Joean, Oana, additional, Kaiser-Labusch, Petra, additional, Klemann, Christian, additional, Kobbe, Robin, additional, Körholz, Julia, additional, Kramm, Christof M., additional, Krüger, Renate, additional, Landwehr-Kenzel, Sybille, additional, Lehmberg, Kai, additional, Liese, Johannes G., additional, Lippert, Conrad Ferdinand, additional, Maccari, Maria Elena, additional, Masjosthusmann, Katja, additional, Meinhardt, Andrea, additional, Metzler, Markus, additional, Morbach, Henner, additional, Müller, Ingo, additional, Naumann-Bartsch, Nora, additional, Neubert, Jennifer, additional, Niehues, Tim, additional, Peter, Hans-Hartmut, additional, Rieber, Nikolaus, additional, Ritterbusch, Henrike, additional, Rockstroh, Jürgen Kurt, additional, Roesler, Joachim, additional, Schauer, Uwe, additional, Scheible, Raphael, additional, Schmalzing, Marc, additional, Schmidt, Reinhold Ernst, additional, Schneider, Dominik T., additional, Schreiber, Stefan, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Schulze-Koops, Hendrik, additional, Schulze-Sturm, Ulf, additional, Schuster, Volker, additional, Schwaneck, Eva C., additional, Schwarz, Klaus, additional, Schwarze-Zander, Carolynne, additional, Sirin, Mehtap, additional, Skapenko, Alla, additional, Sogkas, Georgios, additional, Sparber-Sauer, Monika, additional, Speckmann, Carsten, additional, Steinmann, Sandra, additional, Stiehler, Sophie, additional, Tenbrock, Klaus, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Wasmuth, Jan-Christian, additional, Weiss, Michael, additional, Witte, Torsten, additional, Wittke, Kirsten, additional, Wittkowski, Helmut, additional, Zeuner, Rainald A., additional, Farmaki, Evangelia, additional, Hatzistilianou, Maria N., additional, Kakkas, Ioannis, additional, Kanariou, Maria G., additional, Kapousouzi, Androniki, additional, Liatsis, Emmanouil, additional, Maggina, Paraskevi, additional, Papadopoulou-Alataki, Efimia, additional, Raptaki, Maria, additional, Speletas, Matthaios, additional, Tantou, Sofia, additional, Goda, Vera, additional, Kriván, Gergely, additional, Marodi, Laszlo, additional, Abolhassani, Hassan, additional, Aghamohammadi, Asghar, additional, Rezaei, Nima, additional, Feighery, Conleth, additional, Leahy, Timothy Ronan, additional, Ryan, Paul, additional, Batzir, Nurit Assia, additional, Garty, Ben Zion, additional, Tamary, Hannah, additional, Aiuti, Alessandro, additional, Amodio, Donato, additional, Azzari, Chiara, additional, Barzaghi, Federica, additional, Baselli, Lucia A., additional, Cancrini, Caterina, additional, Carrabba, Maria, additional, Cazzaniga, Marco, additional, Cesaro, Simone, additional, Chinello, Matteo, additional, Danieli, Maria Giovanna, additional, Dellepiane, Rosa Maria, additional, Fabio, Giovanna, additional, Gambineri, Eleonora, additional, Lodi, Lorenzo, additional, Lougaris, Vassilios, additional, Marasco, Carolina, additional, Martire, Baldassarre, additional, Marzollo, Antonio, additional, Milito, Cinzia, additional, Moschese, Viviana, additional, Pignata, Claudio, additional, Plebani, Alessandro, additional, Porta, Fulvio, additional, Quinti, Isabella, additional, Ricci, Silvia, additional, Soresina, Annarosa, additional, Tommasini, Alberto, additional, Vacca, Angelo, additional, Vanessa, Clementina, additional, Blažienė, Audra, additional, Sitkauskiene, Brigita, additional, Gowin, Ewelina, additional, Heropolitańska-Pliszka, Edyta, additional, Pietrucha, Barbara, additional, Szaflarska, Anna, additional, Więsik-Szewczyk, Ewa, additional, Wolska-Kuśnierz, Beata, additional, Esteves, Isabel, additional, Faria, Emilia, additional, Marques, Laura Hora, additional, Neves, João Farela, additional, Silva, Susana L., additional, Teixeira, Carla, additional, Pereira da Silva, Sara, additional, Capilna, Brindusa Ruxandra, additional, Guseva, Marina N., additional, Shcherbina, Anna, additional, Bobcakova, Anna, additional, Ciznar, Peter, additional, Gabzdilova, Juliana, additional, Jesenak, Milos, additional, Kapustova, Lenka, additional, Orosova, Jaroslava, additional, Petrovicova, Otilia, additional, Raffac, Stefan, additional, Kopač, Peter, additional, Allende, Luis M., additional, Antolí, Arnau, additional, Blanch, Gemma Rocamora, additional, Carbone, Javier, additional, Dieli-Crimi, Romina, additional, Garcia-Prat, Marina, additional, Gil-Herrera, Juana, additional, Gonzalez-Granado, Luis Ignacio, additional, Agulló, Pilar Llobet, additional, Olbrich, Peter, additional, Parra-Martínez, Alba, additional, Paz-Artal, Estela, additional, Pleguezuelo, Daniel E., additional, Rodríguez, Nerea Salmón, additional, Sánchez-Ramón, Silvia, additional, Santos-Pérez, Juan Luis, additional, Solanich, Xavier, additional, Soler-Palacin, Pere, additional, González-Amores, Miriam, additional, Ekwall, Olov, additional, Fasth, Anders, additional, Bitzenhofer-Grüber, Michaela, additional, Candotti, Fabio, additional, Dimitriou, Florentia, additional, Heininger, Ulrich, additional, Holbro, Andreas, additional, Jandus, Peter, additional, Kolios, Antonios G.A., additional, Marschall, Karin, additional, Schmid, Jana Pachlopnik, additional, Posfay-Barbe, Klara M., additional, Prader, Seraina, additional, Reichenbach, Janine, additional, Steiner, Urs C., additional, Trück, Johannes, additional, Bredius, Robbert G., additional, de Kruijf- Bazen, Suzanne, additional, de Vries, Esther, additional, Henriet, Stefanie S.V., additional, Kuijpers, Taco W., additional, Potjewijd, Judith, additional, Rutgers, Abraham, additional, Stol, Kim, additional, van Aerde, Koen J., additional, Van den Berg, J. Merlijn, additional, van de Ven, Annick A.J.M., additional, Montfrans, Jorisvan, additional, Aydemir, Sezin, additional, Baris, Safa, additional, Dogu, Figen, additional, Ikinciogullari, Aydan, additional, Karakoc-Aydiner, Elif, additional, Kilic, Sara S., additional, Kiykim, Ayca, additional, Kökçü Karadağ, Şefika İlknur, additional, Kutukculer, Necil, additional, Ocak, Suheyla, additional, UNAL, Ekrem, additional, Boyarchuk, Oksana, additional, Hilfanova, Anna, additional, Kostyuchenko, Larysa V., additional, Alachkar, Hana, additional, Arkwright, Peter D., additional, Baxendale, Helen E., additional, Bernatoniene, Jolanta, additional, Coulter, Tanya I., additional, Garcez, Tomaz, additional, Goddard, Sarah, additional, Gompels, Mark M., additional, Grigoriadou, Sofia, additional, Herriot, Richard, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Ibberson, Lisa, additional, Nademi, Zoreh, additional, Noorani, Sadia, additional, Parvin, Shahnaz, additional, Steele, Cathal Laurence, additional, Thomas, Moira, additional, Waruiru, Catherine, additional, Yong, Patrick F.K., additional, and Bourne, Helen, additional
- Published
- 2021
- Full Text
- View/download PDF
36. The impact of anaphylaxis on the quality of life and mental health of adults.
- Author
-
Knibb, Rebecca C., Huissoon, Aarnoud P., Baretto, Richard, Ekbote, Anjali, Onyango‐Odera, Sham, Screti, Cassandra, Newman, Kristina L., and Krishna, Mamidipudi T.
- Subjects
- *
ANAPHYLAXIS , *QUALITY of life , *MENTAL health , *VENOM hypersensitivity - Abstract
Those with anaphylaxis to food or with spontaneous anaphylaxis reported a bigger impact on their anaphylaxis-specific QoL compared to those with medication or venom as a cause. Poorer anaphylaxis-specific QoL (as measured by the A-QoL-Adults) significantly related to greater anxiety ( I r i = .69), depression ( I r i = .54), stress ( I r i = .38) and poorer generic physical ( I r i = -.50), psychological ( I r i = -.45), social ( I r i = -.36) and environmental QoL ( I r i = -.48). Keywords: adults; anaphylaxis; mental health; quality of life; stress EN adults anaphylaxis mental health quality of life stress 121 125 5 01/27/23 20230101 NES 230101 Key messages Poorer anaphylaxis-specific QoL is significantly related to greater stress, depression, anxiety, demographic and clinical variables. Post hoc tests showed that those with anaphylaxis to medication reported significantly worse physical QoL than those reporting anaphylaxis to venom ( I p i < .01) (Table 2). [Extracted from the article]
- Published
- 2023
- Full Text
- View/download PDF
37. Outcomes Following SARS-CoV-2 Infection in Patients With Primary and Secondary Immunodeficiency in The United Kingdom
- Author
-
Shields, Adrian M, primary, Anantharachagan, Ariharan, additional, Arumugakani, Gururaj, additional, Baker, Kenneth, additional, Bahal, Sameer, additional, Baxendale, Helen, additional, Bermingham, William, additional, Bhole, Malini, additional, Boules, Evon, additional, Bright, Philip, additional, Chopra, Charu, additional, Cliffe, Lucy, additional, Cleave, Betsy, additional, Dempster, John, additional, Devlin, Lisa, additional, Dhalla, Fatima, additional, Diwakar, Lavanya, additional, Drewe, Elizabeth, additional, Duncan, Christopher, additional, Dziadzio, Magdalena, additional, Elcombe, Suzanne, additional, Elkhalifa, Shuayb, additional, Gennery, Andrew, additional, Ghanta, Harichandrana, additional, Goddard, Sarah, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hayman, Grant, additional, Herriot, Richard, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Jain, Rashmi, additional, Jolles, Stephen, additional, Johnston, Sarah, additional, Khan, Sujoy, additional, Laffan, James, additional, Lane, Peter, additional, Leeman, Lucy, additional, Lowe, David M., additional, Mahabir, Shanti, additional, Lochlainn, Dylan James Mac, additional, McDermott, Elizabeth, additional, Misbah, Siraj, additional, Moghaddas, Fiona, additional, Morsi, Hadeil, additional, Murng, Sai, additional, Noorani, Sadia, additional, O’Brien, Rachael, additional, Patel, Smita, additional, Price, Arthur, additional, Rahman, Tasneem, additional, Senevirantne, Suranjith, additional, Shrimpton, Anna, additional, Stroud, Catherine, additional, Thomas, Moira, additional, Townsend, Katie, additional, Vaitla, Prashantha, additional, Verma, Nisha, additional, Williams, Anthony, additional, Burns, Siobhan O., additional, Savic, Sinisa, additional, and Richter, Alex G., additional
- Published
- 2021
- Full Text
- View/download PDF
38. Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of [TCRαβ.sup.+] T cells
- Author
-
Morgan, Neil V., Goddard, Sarah, Cardno, Tony S., McDonald, David, Rahman, Fatimah, Barge, Dawn, Ciupek, Andrew, Straatman-Iwanowska, Anna, Pasha, Shanaz, Guckian, Mary, Anderson, Graham, Huissoon, Aarnoud, Cant, Andrew, Tate, Warren P., Hambleton, Sophie, and Maher, Eamonn R.
- Subjects
T cells -- Properties ,Autoimmunity -- Research ,Disease susceptibility -- Genetic aspects -- Risk factors ,Health care industry - Abstract
Inherited immunodeficiency disorders can be caused by mutations in any one of a large number of genes involved in the function of immune cells. Here, we describe two families with an autosomal recessive inherited immunodeficiency disorder characterized by increased susceptibility to infection and autoimmunity. Genetic linkage studies mapped the disorder to chromosomal region 14q11.2, and a homozygous guanine-to-adenine substitution was identified at the last base of exon 3 immediately following the translational termination codon in the TCRα subunit constant gene (TRAC). RT-PCR analysis in the two affected individuals revealed impaired splicing of themRNA, as exon 3 was lost from the TRAC transcript. The mutant TCRα chain protein was predicted to lack part of the connecting peptide domain and all of the transmembrane and cytoplasmic domains, which have a critical role in the regulation of the assembly and/or intracellular transport of TCR complexes. We found that T cells from affected individuals were profoundly impaired for surface expression of the TCRαβ complex. We believe this to be the first report of a disease-causing human TRAC mutation. Although the absence of [TCRαβ.sup.+] T cells in the affected individuals was associated with immune dysregulation and autoimmunity, they had a surprising level of protection against infection., Introduction Inherited immunodeficiencies have provided novel insights into T and B cell development and immune function. Failure of T cell development, of whatever cause, produces the clinical syndrome of SCID, [...]
- Published
- 2011
- Full Text
- View/download PDF
39. Systemic reactions and anaphylaxis with an acute serum tryptase ≥14 μg/L: retrospective characterisation of aetiology, severity and adherence to National Institute of Health and Care Excellence (NICE) guidelines for serial tryptase measurements and specialist referral
- Author
-
Srivastava, Sapna, Huissoon, Aarnoud P, Barrett, Victoria, Hackett, Scott, Dorrian, Susan, Cooke, Matthew W, and Krishna, Mamidipudi T
- Published
- 2014
- Full Text
- View/download PDF
40. Long‐term safety and effectiveness of berotralstat for hereditary angioedema: The open‐label APeX‐S study
- Author
-
Farkas, Henriette, primary, Stobiecki, Marcin, additional, Peter, Jonny, additional, Kinaciyan, Tamar, additional, Maurer, Marcus, additional, Aygören‐Pürsün, Emel, additional, Kiani‐Alikhan, Sorena, additional, Wu, Adrian, additional, Reshef, Avner, additional, Bygum, Anette, additional, Fain, Olivier, additional, Hagin, David, additional, Huissoon, Aarnoud, additional, Jeseňák, Miloš, additional, Lindsay, Karen, additional, Panovska, Vesna Grivcheva, additional, Steiner, Urs C., additional, Zubrinich, Celia, additional, Best, Jessica M., additional, Cornpropst, Melanie, additional, Dix, Daniel, additional, Dobo, Sylvia M., additional, Iocca, Heather A., additional, Desai, Bhavisha, additional, Murray, Sharon C., additional, Nagy, Eniko, additional, and Sheridan, William P., additional
- Published
- 2021
- Full Text
- View/download PDF
41. Development of a high‐sensitivity ELISA detecting IgG, IgA and IgM antibodies to the SARS‐CoV‐2 spike glycoprotein in serum and saliva
- Author
-
Faustini, Sian E., primary, Jossi, Sian E., additional, Perez‐Toledo, Marisol, additional, Shields, Adrian M., additional, Allen, Joel D., additional, Watanabe, Yasunori, additional, Newby, Maddy L., additional, Cook, Alex, additional, Willcox, Carrie R., additional, Salim, Mahboob, additional, Goodall, Margaret, additional, Heaney, Jennifer L., additional, Marcial‐Juarez, Edith, additional, Morley, Gabriella L., additional, Torlinska, Barbara, additional, Wraith, David C., additional, Veenith, Tonny V., additional, Harding, Stephen, additional, Jolles, Stephen, additional, Ponsford, Mark J., additional, Plant, Tim, additional, Huissoon, Aarnoud, additional, O'Shea, Matthew K., additional, Willcox, Benjamin E., additional, Drayson, Mark T., additional, Crispin, Max, additional, Cunningham, Adam F., additional, and Richter, Alex G., additional
- Published
- 2021
- Full Text
- View/download PDF
42. End-stage renal failure in adolescence with Sjögren’s syndrome autoantibodies SSA and SSB
- Author
-
Johnson, Sally, Hulton, Sally-Anne, Brundler, Marie-Anne, Moss, Celia, Huissoon, Aarnoud, and Taylor, C. Mark
- Published
- 2007
- Full Text
- View/download PDF
43. Publisher Correction:Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)
- Author
-
Thaventhiran, James E.D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H.R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, and ACS - Atherosclerosis & ischemic syndromes
- Abstract
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
- Published
- 2020
- Full Text
- View/download PDF
44. Whole-genome sequencing of a sporadic primary immunodeficiency cohort
- Author
-
Thaventhiran, James E. D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V. V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C., Tait, R. Campbell, Chalmers, Elizabeth, Hague, Rosie, Maxwell, Heather, Peacock, Andrew J., Mark, Patrick B., and Muir, Keith W.
- Abstract
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies1,2,3. Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genetics is not well defined. Here we address these challenges by performing whole-genome sequencing in a large PID cohort of 1,318 participants. An analysis of the coding regions of the genome in 886 index cases of PID found that disease-causing mutations in known genes that are implicated in monogenic PID occurred in 10.3% of these patients, and a Bayesian approach (BeviMed4) identified multiple new candidate PID-associated genes, including IVNS1ABP. We also examined the noncoding genome, and found deletions in regulatory regions that contribute to disease causation. In addition, we used a genome-wide association study to identify loci that are associated with PID, and found evidence for the colocalization of—and interplay between—novel high-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci). This begins to explain the contribution of common variants to the variable penetrance and phenotypic complexity that are observed in PID. Thus, using a cohort-based whole-genome-sequencing approach in the diagnosis of PID can increase diagnostic yield and further our understanding of the key pathways that influence immune responsiveness in humans.
- Published
- 2020
45. Long‐term safety and effectiveness of berotralstat for hereditary angioedema: The open‐label APeX‐S study
- Author
-
Farkas, Henriette, Stobiecki, Marcin; https://orcid.org/0000-0003-0161-4920, Peter, Jonny, Kinaciyan, Tamar, Maurer, Marcus, Aygören‐Pürsün, Emel, Kiani‐Alikhan, Sorena, Wu, Adrian, Reshef, Avner, Bygum, Anette, Fain, Olivier, Hagin, David, Huissoon, Aarnoud, Jeseňák, Miloš, Lindsay, Karen, Panovska, Vesna Grivcheva, Steiner, Urs C, Zubrinich, Celia, Best, Jessica M, Cornpropst, Melanie, Dix, Daniel, Dobo, Sylvia M, Iocca, Heather A, Desai, Bhavisha, Murray, Sharon C, Nagy, Eniko, Sheridan, William P, Farkas, Henriette, Stobiecki, Marcin; https://orcid.org/0000-0003-0161-4920, Peter, Jonny, Kinaciyan, Tamar, Maurer, Marcus, Aygören‐Pürsün, Emel, Kiani‐Alikhan, Sorena, Wu, Adrian, Reshef, Avner, Bygum, Anette, Fain, Olivier, Hagin, David, Huissoon, Aarnoud, Jeseňák, Miloš, Lindsay, Karen, Panovska, Vesna Grivcheva, Steiner, Urs C, Zubrinich, Celia, Best, Jessica M, Cornpropst, Melanie, Dix, Daniel, Dobo, Sylvia M, Iocca, Heather A, Desai, Bhavisha, Murray, Sharon C, Nagy, Eniko, and Sheridan, William P
- Abstract
Background: Berotralstat (BCX7353) is an oral, once-daily inhibitor of plasma kallikrein recently approved for prevention of angioedema attacks in adults and adolescents with hereditary angioedema (HAE). The objective of this report is to summarize results from an interim analysis of an ongoing long-term safety study of berotralstat in patients with HAE. Methods: APeX-S is an ongoing, phase 2, open-label study conducted in 22 countries (ClinicalTrials.gov, NCT03472040). Eligible patients with a clinical diagnosis of HAE due to C1 inhibitor deficiency (HAE-C1-INH) were centrally allocated to receive berotralstat 150 or 110 mg once daily. The primary objective was to determine long-term safety and the secondary objective was to evaluate effectiveness. Results: Enrolled patients (N = 227) received berotralstat 150 mg (n = 127) or 110 mg (n = 100) once daily. The median (range) duration of exposure was 342 (11-540) and 307 (14-429) days for the 150-mg and 110-mg groups, respectively. Treatment-emergent adverse events (TEAEs) occurred in 91% (n = 206) of patients. The most common TEAEs across treatment groups were upper respiratory tract infection (n = 91, 40%), abdominal pain (n = 57, 25%), headache (n = 40, 18%), and diarrhea (n = 31, 14%) and were mostly mild to moderate. Fifty percent (n = 113) of patients had at least one drug-related adverse event (AE; 150 mg, n = 57 [45%]; 110 mg, n = 56 [56%]), and discontinuations due to AEs occurred in 19 (8%) patients (150 mg, n = 13 [10%]; 110 mg, n = 6 [6%]). Three (1.3%) patients experienced a drug-related serious TEAE. Among patients who received berotralstat through 48 weeks (150 mg, n = 73; 110 mg, n = 30), median HAE attack rates were low in month 1 (150 mg, 1.0 attacks/month; 110 mg, 0.5 attacks/month) and remained low through 12 months (0 attacks/month in both dose groups). Mean HAE attack rates followed a similar trend, and no evidence for patient tolerance to berotralstat emerged. In both dose groups, angioedema qua
- Published
- 2021
46. COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience
- Author
-
Shields, Adrian M., primary, Burns, Siobhan O., additional, Savic, Sinisa, additional, Richter, Alex G., additional, Anantharachagan, Ariharan, additional, Arumugakani, Gururaj, additional, Baker, Kenneth, additional, Bahal, Sameer, additional, Bermingham, William, additional, Bhole, Malini, additional, Boules, Evon, additional, Bright, Philip, additional, Burns, Siobhan, additional, Cleave, Betsy, additional, Dempster, John, additional, Devlin, Lisa, additional, Dhalla, Fatima, additional, Drewe, Elizabeth, additional, Duncan, Christopher, additional, Dziadzio, Magdalena, additional, Elkhalifa, Shuayb, additional, Gennery, Andrew, additional, Goddard, Sarah, additional, Grigoriadou, Sofia, additional, Hayman, Grant, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Jain, Rashmi, additional, Jolles, Stephen, additional, Johnston, Sarah, additional, Leeman, Lucy, additional, Mahabir, Shanti, additional, MacLochlainn, Dylan, additional, McDermott, Elizabeth, additional, Misbah, Siraj, additional, Morsi, Hadeil, additional, Murng, Sai, additional, Noorani, Sadia, additional, O’Brien, Rachael, additional, Patel, Smita, additional, Price, Arthur, additional, Richter, Alex, additional, Seneviratne, Suranjith, additional, Shields, Adrian, additional, Shrimpton, Anna, additional, Stroud, Catherine, additional, Vaitla, Prashantha, additional, and Verma, Nisha, additional
- Published
- 2021
- Full Text
- View/download PDF
47. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension
- Author
-
Swietlik, Emilia M., primary, Greene, Daniel, additional, Zhu, Na, additional, Megy, Karyn, additional, Cogliano, Marcella, additional, Rajaram, Smitha, additional, Pandya, Divya, additional, Tilly, Tobias, additional, Lutz, Katie A., additional, Welch, Carrie C.L., additional, Pauciulo, Michael W., additional, Southgate, Laura, additional, Martin, Jennifer M., additional, Treacy, Carmen M., additional, Penkett, Christopher J., additional, Stephens, Jonathan C., additional, Bogaard, Harm J., additional, Church, Colin, additional, Coghlan, Gerry, additional, Coleman, Anna W., additional, Condliffe, Robin, additional, Eichstaedt, Christina A., additional, Eyries, Mélanie, additional, Gall, Henning, additional, Ghio, Stefano, additional, Girerd, Barbara, additional, Grünig, Ekkehard, additional, Holden, Simon, additional, Howard, Luke, additional, Humbert, Marc, additional, Kiely, David G., additional, Kovacs, Gabor, additional, Lordan, Jim, additional, Machado, Rajiv D., additional, MacKenzie Ross, Robert V., additional, McCabe, Colm, additional, Moledina, Shahin, additional, Montani, David, additional, Olschewski, Horst, additional, Pepke-Zaba, Joanna, additional, Price, Laura, additional, Rhodes, Christopher J., additional, Seeger, Werner, additional, Soubrier, Florent, additional, Suntharalingam, Jay, additional, Toshner, Mark R., additional, Vonk Noordegraaf, Anton, additional, Wharton, John, additional, Wild, James M., additional, Wort, Stephen John, additional, Lawrie, Allan, additional, Wilkins, Martin R., additional, Trembath, Richard C., additional, Shen, Yufeng, additional, Chung, Wendy K., additional, Swift, Andrew J., additional, Nichols, William C., additional, Morrell, Nicholas W., additional, Gräf, Stefan, additional, Abbs, Stephen, additional, Abulhoul, Lara, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Aitman, Timothy J., additional, Alachkar, Hana, additional, Allsup, David J., additional, Ancliff, Philip, additional, Antrobus, Richard, additional, Armstrong, Ruth, additional, Arno, Gavin, additional, Ashford, Sofie, additional, Astle, William J., additional, Attwood, Anthony, additional, Aurora, Paul, additional, Babbs, Christian, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Banka, Siddharth, additional, Bariana, Tadbir, additional, Barwell, Julian, additional, Batista, Joana, additional, Baxendale, Helen E., additional, Beales, Phil L., additional, Bennett, David L., additional, Bierzynska, Agnieszka, additional, Biss, Tina, additional, Bitner-Glindzicz, Maria A.K., additional, Black, Graeme C., additional, Bleda, Marta, additional, Blesneac, Iulia, additional, Bockenhauer, Detlef, additional, Boyce, Sara, additional, Bradley, John R., additional, Breen, Gerome, additional, Brennan, Paul, additional, Brewer, Carole, additional, Brown, Matthew, additional, Browning, Andrew C., additional, Browning, Michael J., additional, Buchan, Rachel J., additional, Buckland, Matthew S., additional, Bueser, Teofila, additional, Diz, Carmen Bugarin, additional, Burn, John, additional, Burns, Siobhan O., additional, Burren, Oliver S., additional, Burrows, Nigel, additional, Campbell, Carolyn, additional, Carr-White, Gerald, additional, Carss, Keren, additional, Casey, Ruth, additional, Caulfield, Mark J., additional, Chambers, Jenny, additional, Chambers, John, additional, Chan, Melanie M.Y., additional, Cheng, Floria, additional, Chinnery, Patrick F., additional, Chitre, Manali, additional, Christian, Martin T., additional, Clayton-Smith, Jill, additional, Cleary, Maureen, additional, Brod, Naomi Clements, additional, Colby, Elizabeth, additional, Cole, Trevor R.P., additional, Collins, Janine, additional, Collins, Peter W., additional, Compton, Cecilia J., additional, Cook, H. Terence, additional, Cook, Stuart, additional, Cooper, Nichola, additional, Corris, Paul A., additional, Curry, Nicola S., additional, Daniels, Matthew J., additional, Dattani, Mehul, additional, Daugherty, Louise C., additional, Davis, John, additional, De Soyza, Anthony, additional, Deevi, Sri V.V., additional, Dent, Timothy, additional, Deshpande, Charu, additional, Dewhurst, Eleanor F., additional, Dixon, Peter H., additional, Douzgou, Sofia, additional, Downes, Kate, additional, Drazyk, Anna M., additional, Drewe, Elizabeth, additional, Duarte, Daniel, additional, Dutt, Tina, additional, Edgar, J. David M., additional, Edwards, Karen, additional, Egner, William, additional, Ekani, Melanie N., additional, Elliott, Perry, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Estiu, Maria C., additional, Evans, Dafydd Gareth, additional, Evans, Gillian, additional, Everington, Tamara, additional, Fassihi, Hiva, additional, Favier, Remi, additional, Fletcher, Debra, additional, Flinter, Frances A., additional, Floto, R. Andres, additional, Fowler, Tom, additional, Fox, James, additional, Frary, Amy J., additional, French, Courtney E., additional, Freson, Kathleen, additional, Frontini, Mattia, additional, Furnell, Abigail, additional, Gale, Daniel P., additional, Ganesan, Vijeya, additional, Gattens, Michael, additional, Ghofrani, Hossein-Ardeschir, additional, Gibbs, J. Simon R., additional, Gibson, Kate, additional, Gilmour, Kimberly C., additional, Gleadall, Nicholas S., additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavels, additional, Gosal, David, additional, Graham, Jodie, additional, Grassi, Luigi, additional, Greenhalgh, Lynn, additional, Greinacher, Andreas, additional, Gresele, Paolo, additional, Griffiths, Philip, additional, Grigoriadou, Sofia, additional, Grozeva, Detelina, additional, Gurnell, Mark, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Hague, William M., additional, Haimel, Matthias, additional, Hall, Matthew, additional, Hanson, Helen L., additional, Haque, Eshika, additional, Harkness, Kirsty, additional, Harper, Andrew R., additional, Harris, Claire L., additional, Hart, Daniel, additional, Hassan, Ahamad, additional, Hayman, Grant, additional, Henderson, Alex, additional, Herwadkar, Archana, additional, Hoffman, Jonathan, additional, Horvath, Rita, additional, Houlden, Henry, additional, Houweling, Arjan C., additional, Hu, Fengyuan, additional, Hudson, Gavin, additional, Huissoon, Aarnoud P., additional, Hurles, Matthew, additional, Irving, Melita, additional, Izatt, Louise, additional, James, Roger, additional, Johnson, Sally A., additional, Jolles, Stephen, additional, Jolley, Jennifer, additional, Josifova, Dragana, additional, Jurkute, Neringa, additional, Kasanicki, Mary A., additional, Kazkaz, Hanadi, additional, Kazmi, Rashid, additional, Kelleher, Peter, additional, Kelly, Anne M, additional, Kelsall, Wilf, additional, Kempster, Carly, additional, Kingston, Nathalie, additional, Koelling, Nils, additional, Kostadima, Myrto, additional, Koziell, Ania, additional, Kreuzhuber, Roman, additional, Kuijpers, Taco W., additional, Kumar, Ajith, additional, Kumararatne, Dinakantha, additional, Kurian, Manju A., additional, Laffan, Michael A., additional, Lalloo, Fiona, additional, Lambert, Michele, additional, Allen, Hana Lango, additional, Layton, D. Mark, additional, Lentaigne, Claire, additional, Lester, Tracy, additional, Levine, Adam P., additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena E., additional, Louka, Eleni, additional, Lyons, Paul A., additional, Madan, Bella, additional, Maher, Eamonn R., additional, Maimaris, Jesmeen, additional, Malka, Samantha, additional, Mangles, Sarah, additional, Mapeta, Rutendo, additional, Marchbank, Kevin J., additional, Marks, Stephen, additional, Markus, Hugh S., additional, Marschall, Hanns-Ulrich, additional, Marshall, Andrew, additional, Mathias, Mary, additional, Matthews, Emma, additional, Maxwell, Heather, additional, McAlinden, Paul, additional, McCarthy, Mark I., additional, McKinney, Harriet, additional, Meacham, Stuart, additional, Mead, Adam J., additional, Mehta, Sarju G., additional, Michaelides, Michel, additional, Millar, Carolyn, additional, Mohammed, Shehla N., additional, Moore, Anthony T., additional, Mozere, Monika, additional, Muir, Keith W., additional, Mumford, Andrew D., additional, Nemeth, Andrea H., additional, Newman, William G., additional, Newnham, Michael, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, O’Sullivan, Jennifer, additional, Obaji, Samya, additional, Odhams, Chris, additional, Okoli, Steven, additional, Olschewski, Andrea, additional, Ong, Kai Ren, additional, Oram, S. Helen, additional, Ormondroyd, Elizabeth, additional, Ouwehand, Willem H., additional, Palles, Claire, additional, Papadia, Sofia, additional, Park, Soo-Mi, additional, Parry, David, additional, Patel, Smita, additional, Paterson, Joan, additional, Peacock, Andrew, additional, Pearce, Simon H., additional, Peerlinck, Kathelijne, additional, Petersen, Romina, additional, Pilkington, Clarissa, additional, Poole, Kenneth E.S., additional, Psaila, Bethan, additional, Pyle, Angela, additional, Quinton, Richard, additional, Rahman, Shamima, additional, Rao, Anupama, additional, Raymond, F. Lucy, additional, Rayner-Matthews, Paula J., additional, Rendon, Augusto, additional, Renton, Tara, additional, Rice, Andrew S.C., additional, Richter, Alex, additional, Robert, Leema, additional, Roberts, Irene, additional, Rose, Sarah J., additional, Ross-Russell, Robert, additional, Roughley, Catherine, additional, Roy, Noemi B.A., additional, Ruddy, Deborah M., additional, Sadeghi-Alavijeh, Omid, additional, Saleem, Moin A., additional, Samani, Nilesh, additional, Samarghitean, Crina, additional, Sanchis-Juan, Alba, additional, Sargur, Ravishankar B., additional, Sarkany, Robert N., additional, Satchell, Simon, additional, Savic, Sinisa, additional, Sayer, Genevieve, additional, Sayer, John A., additional, Scelsi, Laura, additional, Schaefer, Andrew M., additional, Schulman, Sol, additional, Scott, Richard, additional, Scully, Marie, additional, Searle, Claire, additional, Sen, Arjune, additional, Sewell, W.A. Carrock, additional, Seyres, Denis, additional, Shah, Neil, additional, Shamardina, Olga, additional, Shapiro, Susan E., additional, Shaw, Adam C., additional, Sibson, Keith, additional, Side, Lucy, additional, Simeoni, Ilenia, additional, Simpson, Michael A., additional, Sims, Matthew C., additional, Sivapalaratnam, Suthesh, additional, Smedley, Damian, additional, Smith, Katherine R., additional, Smith, Kenneth G.C., additional, Snape, Katie, additional, Soranzo, Nicole, additional, Spasic-Boskovic, Olivera, additional, Staines, Simon, additional, Staples, Emily, additional, Stark, Hannah, additional, Stirrups, Kathleen E., additional, Stuckey, Alex, additional, Syrris, Petros, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Rhea Y.Y., additional, Taylor, Jenny C., additional, Taylor, John M., additional, Thaventhiran, James E., additional, Themistocleous, Andreas C., additional, Thomas, David, additional, Thomas, Ellen, additional, Thomas, Moira J., additional, Thomas, Patrick, additional, Thomson, Kate, additional, Thrasher, Adrian J., additional, Thys, Chantal, additional, Tischkowitz, Marc, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Tomlinson, Ian P., additional, Traylor, Matthew, additional, Treadaway, Paul, additional, Tuna, Salih, additional, Turro, Ernest, additional, Twiss, Philip, additional, Vale, Tom, additional, Van Geet, Chris, additional, van Zuydam, Natalie, additional, Vandersteen, Anthony M, additional, Vazquez-Lopez, Marta, additional, von Ziegenweidt, Julie, additional, Wagner, Annette, additional, Waisfisz, Quinten, additional, Walker, Neil, additional, Walker, Suellen M., additional, Ware, James S., additional, Watkins, Hugh, additional, Watt, Christopher, additional, Webster, Andrew R., additional, Wedderburn, Lucy, additional, Wei, Wei, additional, Welch, Steven B., additional, Wessels, Julie, additional, Westbury, Sarah K., additional, Westwood, John-Paul, additional, Whitehorn, Deborah, additional, Whitworth, James, additional, Wilkie, Andrew O.M., additional, Williamson, Catherine, additional, Wilson, Brian T., additional, Wong, Edwin K.S., additional, Wood, Nicholas, additional, Wood, Yvette, additional, Woods, Christopher Geoffrey, additional, Woodward, Emma R., additional, Worth, Austen, additional, Wright, Michael, additional, Yates, Katherine, additional, Yong, Patrick F.K., additional, Young, Timothy, additional, Yu, Ping, additional, Yu-Wai-Man, Patrick, additional, Zlamalova, Eliska, additional, Hirsch, Russel, additional, White, R. James, additional, Simon, Marc, additional, Badesch, David, additional, Rosenzweig, Erika, additional, Burger, Charles, additional, Chakinala, Murali, additional, Thenappan, Thenappan, additional, Elliott, Greg, additional, Simms, Robert, additional, Farber, Harrison, additional, Frantz, Robert, additional, Elwing, Jean, additional, Hill, Nicholas, additional, Ivy, Dunbar, additional, Klinger, James, additional, Nathan, Steven, additional, Oudiz, Ronald, additional, Robbins, Ivan, additional, Schilz, Robert, additional, Fortin, Terry, additional, Wilt, Jeffrey, additional, Yung, Delphine, additional, Austin, Eric, additional, Ahmad, Ferhaan, additional, Bhatt, Nitin, additional, Lahm, Tim, additional, Frost, Adaani, additional, Safdar, Zeenat, additional, Rehman, Zia, additional, Walter, Robert, additional, Torres, Fernando, additional, Bakshi, Sahil, additional, Archer, Stephen, additional, Argula, Rahul, additional, Barnett, Christopher, additional, Benza, Raymond, additional, Desai, Ankit, additional, and Maddipati, Veeranna, additional
- Published
- 2021
- Full Text
- View/download PDF
48. Increased Seroprevalence and Improved Antibody Responses Following Third Primary SARS-CoV-2 Immunisation: An Update From the COV-AD Study.
- Author
-
Shields, Adrian M., Faustini, Sian E., Hill, Harriet J., Al-Taei, Saly, Tanner, Chloe, Ashford, Fiona, Workman, Sarita, Moreira, Fernando, Verma, Nisha, Wagg, Hollie, Heritage, Gail, Campton, Naomi, Stamataki, Zania, Drayson, Mark T., Klenerman, Paul, Thaventhiran, James E. D., Elkhalifa, Shuayb, Goddard, Sarah, Johnston, Sarah, and Huissoon, Aarnoud
- Subjects
ANTIBODY formation ,PRIMARY immunodeficiency diseases ,SARS-CoV-2 ,COVID-19 vaccines ,IMMUNIZATION - Abstract
Background: Patients with primary and secondary antibody deficiency are vulnerable to COVID-19 and demonstrate diminished responses following two-dose SARS-CoV-2 vaccine schedules. Third primary vaccinations have been deployed to enhance their humoral and cellular immunity. Objectives: To determine the immunogenicity of the third primary SARS-CoV-2 immunisation in a heterogeneous cohort of patients with antibody deficiency. Methods: Participants enrolled in the COV-AD study were sampled before and after their third vaccine dose. Serological and cellular responses were determined using ELISA, livevirus neutralisation and ELISPOT assays. Results: Following a two-dose schedule, 100% of healthy controls mounted a serological response to SARS-CoV-2 vaccination, however, 38.6% of individuals with antibody deficiency remained seronegative. A third primary SARS-CoV-2 vaccine significantly increased anti-spike glycoprotein antibody seroprevalence from 61.4% to 76.0%, the magnitude of the antibody response, its neutralising capacity and induced seroconversion in individuals who were seronegative after two vaccine doses. Vaccine-induced serological responses were broadly cross-reactive against the SARS-CoV-2 B.1.1.529 variant of concern, however, seroprevalence and antibody levels remained significantly lower than healthy controls. No differences in serological responses were observed between individuals who received AstraZeneca ChAdOx1 nCoV-19 and Pfizer BioNTech 162b2 during their initial two-dose vaccine schedule. SARS-CoV-2 infectionnaive participants who had received a heterologous vaccine as a third dose were significantly more likely to have a detectable T cell response following their third vaccine dose (61.5% vs 11.1%). Conclusion: These data support the widespread use of third primary immunisations to enhance humoral immunity against SARS-CoV-2 in individuals with antibody deficiency. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
49. Vaccine-Derived Poliomyelitis 12 Years after Infection
- Author
-
MacLennan, Calman A., Huissoon, Aarnoud P., and Kumararatne, Dinakantha S.
- Published
- 2011
50. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
- Author
-
McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Price, Sue, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Al Turki, Saeed, Anderson, Carl, Anney, Richard, Antony, Dinu, Artigas, Maria Soler, Ayub, Muhammad, Balasubramaniam, Senduran, Barroso, Inês, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Birney, Ewan, Blackwood, Douglas, Bobrow, Martin, Bochukova, Elena, Bolton, Patrick, Bounds, Rebecca, Boustred, Chris, Breen, Gerome, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Chen, Lu, Ciampi, Antonio, Cirak, Sebhattin, Clapham, Peter, Clement, Gail, Coates, Guy, Collier, David, Cosgrove, Catherine, Cox, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Daly, Allan, Day-Williams, Aaron, Day, Ian N.M., Down, Thomas, Du, Yuanping, Dunham, Ian, Edkins, Sarah, Ellis, Peter, Evans, David, Faroogi, Sadaf, Fatemifar, Ghazaleh, Fitzpatrick, David R., Flicek, Paul, Flyod, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Gallagher, Louise, Geihs, Matthias, Geschwind, Daniel, Griffin, Heather, Grozeva, Detelina, Guo, Xueqin, Guo, Xiaosen, Gurling, Hugh, Hart, Deborah, Hendricks, Audrey, Holmans, Peter, Howie, Bryan, Huang, Liren, Hubbard, Tim, Humphries, Steve E., Hysi, Pirro, Jackson, David K., Jamshidi, Yalda, Jing, Tian, Joyce, Chris, Kaye, Jane, Keane, Thomas, Keogh, Julia, Kemp, John, Kennedy, Karen, Kolb-Kokocinski, Anja, Lachance, Genevieve, Langford, Cordelia, Lawson, Daniel, Lee, Irene, Lek, Monkol, Liang, Jieqin, Lin, Hong, Li, Rui, Li, Yingrui, Liu, Ryan, Lönnqvist, Jouko, Lopes, Margarida, Iotchkova, Valentina, MacArthur, Daniel, Marchini, Jonathan, Maslen, John, Massimo, Mangino, Mathieson, Iain, Marenne, Gaëlle, McGuffin, Peter, McIntosh, Andrew, McKechanie, Andrew G., McQuillin, Andrew, Metrustry, Sarah, Mitchison, Hannah, Moayyeri, Alireza, Morris, James, Muntoni, Francesco, Northstone, Kate, O'Donnovan, Michael, Onoufriadis, Alexandros, O'Rahilly, Stephen, Oualkacha, Karim, Owen, Michael J., Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy R., Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Pietilainen, Olli, Plagnol, Vincent, Quaye, Lydia, Quail, Michael A., Rehnström, Karola, Ring, Susan, Ritchie, Graham R.S., Roberts, Nicola, Savage, David B., Scambler, Peter, Schiffels, Stephen, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Sharp, Sally I., Shin, So-Youn, Skuse, David, Small, Kerrin, Southam, Lorraine, Spasic-Boskovic, Olivera, St Clair, David, Stalker, Jim, Stevens, Elizabeth, St Pourcian, Beate, Sun, Jianping, Suvisaari, Jaana, Tachmazidou, Ionna, Tobin, Martin D., Valdes, Ana, Van Kogelenberg, Margriet, Visscher, Peter M., Wain, Louise V., Walters, James T.R., Wang, Guangbiao, Wang, Jun, Wang, Yu, Ward, Kirsten, Wheeler, Elanor, Whyte, Tamieka, Williams, Hywel, Williamson, Kathleen A., Wilson, Crispian, Wong, Kim, Xu, ChangJiang, Yang, Jian, Zhang, Fend, Zhang, Pingbo, Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Carmichael, Jenny, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Coghlan, Gerry, Collins, Peter, Cooper, Nichola, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Devlin, Lisa, Dewhurst, Eleanor, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Fox, James C., Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Hu, Fengyuan, Huissoon, Aarnoud, Humbert, Marc, James, Roger, Jolles, Stephen, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lawrie, Allan, Lear, Sara, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Machado, Rajiv, Mackenzie, Rob, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Parker, Alasdair, Pasi, John, Patch, Chris, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Roughley, Catherine, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schulman, Sol, Schulze, Harald, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth, Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Tait, R. Campbell, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Webster, Andrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim, Yu, Ping, Gorman, Kathleen M., Meyer, Esther, Spinelli, Egidio, McTague, Amy, Carss, Keren J., Bryant, Emily, Reich, Adi, Schneider, Amy L., Pressler, Ronit M., Simpson, Michael A., Debelle, Geoff D., Sieciechowicz, Diana, Jan-Kamsteeg, Eric, Paciorkowski, Alex R., King, Mary D., Cross, J. Helen, Poduri, Annapurna, Mefford, Heather C., Scheffer, Ingrid E., Haack, Tobias B., McCullagh, Gary, Millichap, John J., Carvill, Gemma L., Maher, Eamonn R., and Kurian, Manju A.
- Published
- 2019
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.