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184 results on '"Galal, Nermeen"'

7. Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: A worldwide study

Author

El-Sayed, Zeinab A., El-Ghoneimy, Dalia H., Ortega-Martell, José A., Radwan, Nesrine, Aldave, Juan C., Al-Herz, Waleed, Al-Nesf, Maryam A., Condino-Neto, Antonio, Cole, Theresa, Eley, Brian, Erwa, Nahla H.H., Espinosa-Padilla, Sara, Faria, Emilia, Rosario Filho, Nelson A., Fuleihan, Ramsay, Galal, Nermeen, Garabedian, Elizabeth, Hintermeyer, Mary, Imai, Kohsuke, Irani, Carla, Kamal, Ebtihal, Kechout, Nadia, Klocperk, Adam, Levin, Michael, Milota, Tomas, Ouederni, Monia, Paganelli, Roberto, Pignata, Claudio, Qamar, Farah N., Quinti, Isabella, Qureshi, Sonia, Radhakrishnan, Nita, Rezaei, Nima, Routes, John, Singh, Surjit, Siniah, Sangeetha, Abdel-Hakam Taha, Intisar, Tanno, Luciana K., Van Dort, Ben, Volokha, Alla, and Sullivan, Kathleen

Published
2022
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8. Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

Author

Frede, Natalie, Rojas-Restrepo, Jessica, Caballero Garcia de Oteyza, Andrés, Buchta, Mary, Hübscher, Katrin, Gámez-Díaz, Laura, Proietti, Michele, Saghafi, Shiva, Chavoshzadeh, Zahra, Soler-Palacin, Pere, Galal, Nermeen, Adeli, Mehdi, Aldave-Becerra, Juan Carlos, Al-Ddafari, Moudjahed Saleh, Ardenyz, Ömür, Atkinson, T. Prescott, Kut, Fulya Bektas, Çelmeli, Fatih, Rees, Helen, Kilic, Sara S., Kirovski, Ilija, Klein, Christoph, Kobbe, Robin, Korganow, Anne-Sophie, Lilic, Desa, Lunt, Peter, Makwana, Niten, Metin, Ayse, Özgür, Tuba Turul, Karakas, Ayse Akman, Seneviratne, Suranjith, Sherkat, Roya, Sousa, Ana Berta, Unal, Ekrem, Patiroglu, Turkan, Wahn, Volker, von Bernuth, Horst, Whiteford, Margo, Doffinger, Rainer, Jouhadi, Zineb, and Grimbacher, Bodo

Published
2021
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9. Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

Author

Zielen, Stefan, Duecker, Ruth Pia, Woelke, Sandra, Donath, Helena, Bakhtiar, Sharhzad, Buecker, Aileen, Kreyenberg, Hermann, Huenecke, Sabine, Bader, Peter, Mahlaoui, Nizar, Ehl, Stephan, El-Helou, Sabine M., Pietrucha, Barbara, Plebani, Alessandro, van der Flier, Michiel, van Aerde, Koen, Kilic, Sara S., Reda, Shereen M., Kostyuchenko, Larysa, McDermott, Elizabeth, Galal, Nermeen, Pignata, Claudio, Pérez, Juan Luis Santos, Laws, Hans-Juergen, Niehues, Tim, Kutukculer, Necil, Seidel, Markus G., Marques, Laura, Ciznar, Peter, Edgar, John David M., Soler-Palacín, Pere, von Bernuth, Horst, Krueger, Renate, Meyts, Isabelle, Baumann, Ulrich, Kanariou, Maria, Grimbacher, Bodo, Hauck, Fabian, Graf, Dagmar, Granado, Luis Ignacio Gonzalez, Prader, Seraina, Reisli, Ismail, Slatter, Mary, Rodríguez-Gallego, Carlos, Arkwright, Peter D., Bethune, Claire, Deripapa, Elena, Sharapova, Svetlana O., Lehmberg, Kai, Davies, E. Graham, Schuetz, Catharina, Kindle, Gerhard, and Schubert, Ralf

Published
2021
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10. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity

Author

Baris, Safa, Abolhassani, Hassan, Massaad, Michel J., Al-Nesf, Maryam, Chavoshzadeh, Zahra, Keles, Sevgi, Reisli, Ismail, Tahiat, Azzeddine, Shendi, Hiba Mohammad, Elaziz, Dalia Abd, Belaid, Brahim, Al Dhaheri, Fatima, Haskologlu, Sule, Dogu, Figen, Ben-Mustapha, Imen, Sobh, Ali, Galal, Nermeen, Meshaal, Safa, Elhawary, Rabab, El-marsafy, Aisha, Alroqi, Fayhan J., Al-Saud, Bandar, Al-Ahmad, Mona, Al Farsi, Tariq, AL Sukaiti, Nashat, Al-Tamemi, Salem, Mehawej, Cybel, Dbaibo, Ghassan, ElGhazali, Gehad, Kilic, Sara Sebnem, Genel, Ferah, Kiykim, Ayca, Musabak, Ugur, Artac, Hasibe, Guner, Sukru Nail, Boukari, Rachida, Djidjik, Reda, Kechout, Nadia, Cagdas, Deniz, El-Sayed, Zeinab Awad, Karakoc-Aydiner, Elif, Alzyoud, Raed, Barbouche, Mohamed Ridha, Adeli, Mehdi, Wakim, Rima Hanna, Reda, Shereen M., Ikinciogullari, Aydan, Ozen, Ahmet, Bousfiha, Aziz, Al-Mousa, Hamoud, Rezaei, Nima, Al-Herz, Waleed, and Geha, Raif S.

Published
2022
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11. 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
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15. X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

Author

El-Sayed, Zeinab A., Abramova, Irina, Aldave, Juan Carlos, Al-Herz, Waleed, Bezrodnik, Liliana, Boukari, Rachida, Bousfiha, Ahmed Aziz, Cancrini, Caterina, Condino-Neto, Antonio, Dbaibo, Ghassan, Derfalvi, Beata, Dogu, Figen, Edgar, J.David M., Eley, Brian, El-Owaidy, Rasha Hasan, Espinosa-Padilla, Sara Elva, Galal, Nermeen, Haerynck, Filomeen, Hanna-Wakim, Rima, Hossny, Elham, Ikinciogullari, Aydan, Kamal, Ebtihal, Kanegane, Hirokazu, Kechout, Nadia, Lau, Yu Lung, Morio, Tomohiro, Moschese, Viviana, Neves, Joao Farela, Ouederni, Monia, Paganelli, Roberto, Paris, Kenneth, Pignata, Claudio, Plebani, Alessandro, Qamar, Farah Naz, Qureshi, Sonia, Radhakrishnan, Nita, Rezaei, Nima, Rosario, Nelson, Routes, John, Sanchez, Berta, Sediva, Anna, Seppanen, Mikko RJ., Serrano, Edith Gonzalez, Shcherbina, Anna, Singh, Surjit, Siniah, Sangeetha, Spadaro, Guiseppe, Tang, Mimi, Vinet, Ana Maria, Volokha, Alla, and Sullivan, Kathleen E.

Published
2019
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16. BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.

Author

Marciano, Beatriz, Huang, Chiung-Yu, Joshi, Gyan, Rezaei, Nima, Carvalho, Beatriz, Allwood, Zoe, Ikinciogullari, Aydan, Reda, Shereen, Gennery, Andrew, Thon, Vojtech, Espinosa-Rosales, Francisco, Al-Herz, Waleed, Porras, Oscar, Shcherbina, Anna, Szaflarska, Anna, Kiliç, Şebnem, Franco, Jose, Gómez Raccio, Andrea, Roxo, Persio, Esteves, Isabel, Galal, Nermeen, Grumach, Anete, Al-Tamemi, Salem, Yildiran, Alisan, Orellana, Julio, Yamada, Masafumi, Morio, Tomohiro, Liberatore, Diana, Ohtsuka, Yoshitoshi, Lau, Yu-Lung, Nishikomori, Ryuta, Torres-Lozano, Carlos, Mazzucchelli, Juliana, Vilela, Maria, Tavares, Fabiola, Cunha, Luciana, Pinto, Jorge, Espinosa-Padilla, Sara, Hernandez-Nieto, Leticia, Elfeky, Reem, Ariga, Tadashi, Toshio, Heike, Dogu, Figen, Cipe, Funda, Formankova, Renata, Nuñez-Nuñez, M, Bezrodnik, Liliana, Marques, Jose, Pereira, María, Listello, Viviana, Slatter, Mary, Nademi, Zohreh, Kowalczyk, Danuta, Fleisher, Thomas, Davies, Graham, Neven, Bénédicte, and Rosenzweig, Sergio

Subjects
BCG, Primary immunodeficiency, hematopoietic stem cell transplant, immune reconstitution syndrome, mycobacteria, newborn screening, severe combined immunodeficiency, vaccine, BCG Vaccine, Child, Preschool, Comorbidity, Female, Hematopoietic Stem Cell Transplantation, Humans, Infant, Infant, Newborn, Kaplan-Meier Estimate, Male, Prevalence, Retrospective Studies, Risk, Severe Combined Immunodeficiency, Vaccination
Abstract

BACKGROUND: Severe combined immunodeficiency (SCID) is a syndrome characterized by profound T-cell deficiency. BCG vaccine is contraindicated in patients with SCID. Because most countries encourage BCG vaccination at birth, a high percentage of patients with SCID are vaccinated before their immune defect is detected. OBJECTIVES: We sought to describe the complications and risks associated with BCG vaccination in patients with SCID. METHODS: An extensive standardized questionnaire evaluating complications, therapeutics, and outcomes regarding BCG vaccination in patients given a diagnosis of SCID was widely distributed. Summary statistics and association analysis was performed. RESULTS: Data on 349 BCG-vaccinated patients with SCID from 28 centers in 17 countries were analyzed. Fifty-one percent of the patients had BCG-associated complications, 34% disseminated and 17% localized (a 33,000- and 400-fold increase, respectively, over the general population). Patients receiving early vaccination (≤1 month) showed an increased prevalence of complications (P = .006) and death caused by BCG-associated complications (P < .0001). The odds of experiencing complications among patients with T-cell numbers of 250/μL or less at diagnosis was 2.1 times higher (95% CI, 1.4-3.4 times higher; P = .001) than among those with T-cell numbers of greater than 250/μL. BCG-associated complications were reported in 2 of 78 patients who received antimycobacterial therapy while asymptomatic, and no deaths caused by BCG-associated complications occurred in this group. In contrast, 46 BCG-associated deaths were reported among 160 patients treated with antimycobacterial therapy for a symptomatic BCG infection (P < .0001). CONCLUSIONS: BCG vaccine has a very high rate of complications in patients with SCID, which increase morbidity and mortality rates. Until safer and more efficient antituberculosis vaccines become available, delay in BCG vaccination should be considered to protect highly vulnerable populations from preventable complications.

Published
2014

19. Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

Author

Schütz, Katharina, Alecsandru, Diana, Grimbacher, Bodo, Haddock, Jamanda, Bruining, Annemarie, Driessen, Gertjan, de Vries, Esther, van Hagen, Peter M., Hartmann, Ieneke, Fraioli, Francesco, Milito, Cinzia, Mitrevski, Milica, Quinti, Isabella, Serra, Goffredo, Kelleher, Peter, Loebinger, Michael, Litzman, Jiri, Postranecka, Vera, Thon, Vojtech, Babar, Judith, Condliffe, Alison M., Exley, Andrew, Kumararatne, Dinakantha, Screaton, Nick, Jones, Alison, Bondioni, Maria P., Lougaris, Vassilios, Plebani, Alessandro, Soresina, Annarosa, Sirignano, Cesare, Spadaro, Giuseppe, Galal, Nermeen, Gonzalez-Granado, Luis I., Dettmer, Sabine, Stirling, Robert, Chapel, Helen, Lucas, Mary, Patel, Smita, Farber, Claire-Michele, Meyts, Isabelle, Banerjee, Arpan K., Hackett, Scott, Hurst, John R., Warnatz, Klaus, Gathmann, Benjamin, Baumann, Ulrich, and for the Chest CT in Antibody Deficiency Group

Published
2019
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20. Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

Author

Schütz, Katharina, Alecsandru, Diana, Grimbacher, Bodo, Haddock, Jamanda, Bruining, Annemarie, Driessen, Gertjan, de Vries, Esther, van Hagen, Peter M., Hartmann, Ieneke, Fraioli, Francesco, Milito, Cinzia, Mitrevski, Milica, Quinti, Isabella, Serra, Goffredo, Kelleher, Peter, Loebinger, Michael, Litzman, Jiri, Postranecka, Vera, Thon, Vojtech, Babar, Judith, Condliffe, Alison M., Exley, Andrew, Kumararatne, Dinakantha, Screaton, Nick, Jones, Alison, Bondioni, Maria P, Lougaris, Vassilios, Plebani, Alessandro, Soresina, Annarosa, Sirignano, Cesare, Spadaro, Giuseppe, Galal, Nermeen, Gonzalez-Granado, Luis I., Dettmer, Sabine, Stirling, Robert, Chapel, Helen, Lucas, Mary, Patel, Smita, Farber, Claire-Michele, Meyts, Isabelle, Banerjee, Arpan K, Hackett, Scott, Hurst, John R., Warnatz, Klaus, Gathmann, Benjamin, Weidemann, Jürgen, Berthold, Daniel, Baumann, Ulrich, and for the Chest CT in Antibody Deficiency Group

Published
2019
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21. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity

Author

Baris, Safa, primary, Abolhassani, Hassan, additional, Massaad, Michel J., additional, Al-Nesf, Maryam, additional, Chavoshzadeh, Zahra, additional, Keles, Sevgi, additional, Reisli, Ismail, additional, Tahiat, Azzeddine, additional, Shendi, Hiba Mohammad, additional, Elaziz, Dalia Abd, additional, Belaid, Brahim, additional, Al Dhaheri, Fatima, additional, Haskologlu, Sule, additional, Dogu, Figen, additional, Ben-Mustapha, Imen, additional, Sobh, Ali, additional, Galal, Nermeen, additional, Meshaal, Safa, additional, Elhawary, Rabab, additional, El-marsafy, Aisha, additional, Alroqi, Fayhan J., additional, Al-Saud, Bandar, additional, Al-Ahmad, Mona, additional, Al Farsi, Tariq, additional, AL Sukaiti, Nashat, additional, Al-Tamemi, Salem, additional, Mehawej, Cybel, additional, Dbaibo, Ghassan, additional, ElGhazali, Gehad, additional, Kilic, Sara Sebnem, additional, Genel, Ferah, additional, Kiykim, Ayca, additional, Musabak, Ugur, additional, Artac, Hasibe, additional, Guner, Sukru Nail, additional, Boukari, Rachida, additional, Djidjik, Reda, additional, Kechout, Nadia, additional, Cagdas, Deniz, additional, El-Sayed, Zeinab Awad, additional, Karakoc-Aydiner, Elif, additional, Alzyoud, Raed, additional, Barbouche, Mohamed Ridha, additional, Adeli, Mehdi, additional, Wakim, Rima Hanna, additional, Reda, Shereen M., additional, Ikinciogullari, Aydan, additional, Ozen, Ahmet, additional, Bousfiha, Aziz, additional, Al-Mousa, Hamoud, additional, Rezaei, Nima, additional, Al-Herz, Waleed, additional, and Geha, Raif S., additional

Published
2023
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23. Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

Author

Abolhassani, Hassan, primary, Avcin, Tadej, additional, Bahceciler, Nerin, additional, Balashov, Dmitry, additional, Bata, Zsuzsanna, additional, Bataneant, Mihaela, additional, Belevtsev, Mikhail, additional, Bernatowska, Ewa, additional, Bidló, Judit, additional, Blazsó, Péter, additional, Boisson, Bertrand, additional, Bolkov, Mikhail, additional, Bondarenko, Anastasia, additional, Boyarchuk, Oksana, additional, Bundschu, Anna, additional, Casanova, Jean-Laurent, additional, Chernishova, Liudmyla, additional, Ciznar, Peter, additional, Csürke, Ildikó, additional, Erdős, Melinda, additional, Farkas, Henriette, additional, Fomina, Daria S., additional, Galal, Nermeen, additional, Goda, Vera, additional, Guner, Sukru Nail, additional, Hauser, Péter, additional, Ilyina, Natalya I., additional, Iremadze, Teona, additional, Iritsyan, Sevan, additional, Ismaili-Jaha, Vlora, additional, Jesenak, Milos, additional, Kelecic, Jadranka, additional, Keles, Sevgi, additional, Kindle, Gerhard, additional, Kondratenko, Irina V., additional, Kostyuchenko, Larysa, additional, Kovzel, Elena, additional, Kriván, Gergely, additional, Kuli-Lito, Georgina, additional, Kumánovics, Gábor, additional, Kurjane, Natalja, additional, Latysheva, Elena A., additional, Latysheva, Tatiana V., additional, Lázár, István, additional, Markelj, Gasper, additional, Markovic, Maja, additional, Maródi, László, additional, Mammadova, Vafa, additional, Medvecz, Márta, additional, Miltner, Noémi, additional, Mironska, Kristina, additional, Modell, Fred, additional, Modell, Vicki, additional, Mosdósi, Bernadett, additional, Mukhina, Anna A., additional, Murdjeva, Marianna, additional, Műzes, Györgyi, additional, Nabieva, Umida, additional, Nasrullayeva, Gulnara, additional, Naumova, Elissaveta, additional, Nagy, Kálmán, additional, Onozó, Beáta, additional, Orozbekova, Bubusaira, additional, Pac, Malgorzata, additional, Pagava, Karaman, additional, Pampura, Alexander N., additional, Pasic, Srdjan, additional, Petrosyan, Mery, additional, Petrovic, Gordana, additional, Pocek, Lidija, additional, Prodeus, Andrei P., additional, Reisli, Ismail, additional, Ress, Krista, additional, Rezaei, Nima, additional, Rodina, Yulia A., additional, Rumyantsev, Alexander G., additional, Sciuca, Svetlana, additional, Sediva, Anna, additional, Serban, Margit, additional, Sharapova, Svetlana, additional, Shcherbina, Anna, additional, Sitkauskiene, Brigita, additional, Snimshchikova, Irina, additional, Spahiu-Konjusha, Shqipe, additional, Szolnoky, Miklós, additional, Szűcs, Gabriella, additional, Toplak, Natasa, additional, Tóth, Beáta, additional, Tsyvkina, Galina, additional, Tuzankina, Irina, additional, Vlasova, Elena, additional, and Volokha, Alla, additional

Published
2022
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24. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

Author

Engelhardt, Karin R., Gertz, Michael E., Keles, Sevgi, Schäffer, Alejandro A., Sigmund, Elena C., Glocker, Cristina, Saghafi, Shiva, Pourpak, Zahra, Ceja, Ruben, Sassi, Atfa, Graham, Laura E., Massaad, Michel J., Mellouli, Fethi, Ben-Mustapha, Imen, Khemiri, Monia, Kilic, Sara Sebnem, Etzioni, Amos, Freeman, Alexandra F., Thiel, Jens, Schulze, Ilka, Al-Herz, Waleed, Metin, Ayse, Sanal, Özden, Tezcan, Ilhan, Yeganeh, Mehdi, Niehues, Tim, Dueckers, Gregor, Weinspach, Sebastian, Patiroglu, Turkan, Unal, Ekrem, Dasouki, Majed, Yilmaz, Mustafa, Genel, Ferah, Aytekin, Caner, Kutukculer, Necil, Somer, Ayper, Kilic, Mehmet, Reisli, Ismail, Camcioglu, Yildiz, Gennery, Andrew R., Cant, Andrew J., Jones, Alison, Gaspar, Bobby H., Arkwright, Peter D., Pietrogrande, Maria C., Baz, Zeina, Al-Tamemi, Salem, Lougaris, Vassilios, Lefranc, Gerard, Megarbane, Andre, Boutros, Jeannette, Galal, Nermeen, Bejaoui, Mohamed, Barbouche, Mohamed-Ridha, Geha, Raif S., Chatila, Talal A., and Grimbacher, Bodo

Published
2015
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31. Clinical picture and treatment of 2212 patients with common variable immunodeficiency

Author

Gathmann, Benjamin, Mahlaoui, Nizar, Gérard, Laurence, Oksenhendler, Eric, Warnatz, Klaus, Schulze, Ilka, Kindle, Gerhard, Kuijpers, Taco W., van Beem, Rachel T., Guzman, David, Workman, Sarita, Soler-Palacín, Pere, De Gracia, Javier, Witte, Torsten, Schmidt, Reinhold E., Litzman, Jiri, Hlavackova, Eva, Thon, Vojtech, Borte, Michael, Borte, Stephan, Kumararatne, Dinakantha, Feighery, Conleth, Longhurst, Hilary, Helbert, Matthew, Szaflarska, Anna, Sediva, Anna, Belohradsky, Bernd H., Jones, Alison, Baumann, Ulrich, Meyts, Isabelle, Kutukculer, Necil, Wågström, Per, Galal, Nermeen Mouftah, Roesler, Joachim, Farmaki, Evangelia, Zinovieva, Natalia, Ciznar, Peter, Papadopoulou-Alataki, Efimia, Bienemann, Kirsten, Velbri, Sirje, Panahloo, Zoya, and Grimbacher, Bodo

Published
2014
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32. Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Author

Petersen, Britt-Sabina, August, Dietrich, Abt, Renate, Alddafari, Moudjahed, Atarod, Lida, Baris, Safa, Bhavsar, Hemant, Brinkert, Florian, Buchta, Mary, Bulashevska, Alla, Chee, Ronnie, Cordeiro, Ana I., Dara, Naghi, Dückers, Gregor, Elmarsafy, Aisha, Frede, Natalie, Galal, Nermeen, Gerner, Patrick, Glocker, Erik-Oliver, Goldacker, Sigune, Hammermann, Jutta, Hasselblatt, Peter, Havlicekova, Zuzana, Hübscher, Katrin, Jesenak, Milos, Karaca, Neslihan E., Karakoc-Aydiner, Elif, Kharaghani, Mahboubeh M., Kilic, Sara S., Kiykim, Ayca, Klein, Christoph, Klemann, Christian, Kobbe, Robin, Kotlarz, Daniel, Laass, Martin W., Leahy, T. Ronan, Mesdaghi, Mehrnaz, Mitton, Sally, Neves, João F., Öztürk, Birol, Pereira, Luis F., Rohr, Jan, Restrepo, Jessica L. R., Ruzaike, Gunda, Saleh, Nadia, Seneviratne, Suranjith, Senol, Ebru, Speckmann, Carsten, Tegtmeyer, Daniel, Thankam, Paul, van der Werff ten Bosch, Jutte, von Bernuth, Horst, Zeissig, Sebastian, Zeissig, Yvonne, Franke, Andre, and Grimbacher, Bodo

Published
2017
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34. 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
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35. A Rose Amongst the Thorns: the Mission of the J Project in a Conflictual World.

Author

Maródi, László, and The J Project Study Group, Abolhassani, Hassan, Avcin, Tadej, Bahceciler, Nerin, Bataneant, Mihaela, Belevtsev, Mikhail, Bernatowska, Ewa, Bolkov, Mikhail, Bondarenko, Anastasia, Boyarchuk, Oksana, Erdős, Melinda, Galal, Nermeen, Iritsyan, Sevan, Ismaili-Jaha, Vlora, Kelecic, Jadranka, Keles, Sevgi, Kostyuchenko, Larysa, Kovzel, Elena, and Kuli-Lito, Georgina

Subjects
SARS-CoV-2
Abstract

It is also likely that the JP is only one of the PID-related activities in the countries that have joined the Project over the past 18 years Acknowledgements We thank the patients and parents of the patients for helpful collaboration and trust. In 11 countries one JP event were reported and 7 countries had no meeting at all. An outstanding number of JP events were organized in Russia having the largest population among countries involved in the JP in ECE. To the Editor: The J Project (JP) physician education and clinical research collaboration program was established in 2004 by clinician scientists in Eastern and Central Europe (ECE) to increase awareness of primary immunodeficiency disorders (PIDs) and improve the complex care of patients with these conditions [[1]]. [Extracted from the article]

Published
2022
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42. MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes

Author

El Hawary, Rabab E, Mauracher, Andrea A, Meshaal, Safa S, Eldash, Alia, Abd Elaziz, Dalia S, Alkady, Radwa, Lotfy, Sohilla, Opitz, Lennart, Galal, Nermeen M, Boutros, Jeannette A, Pachlopnik Schmid, Jana, Elmarsafy, Aisha M, University of Zurich, and El Hawary, Rabab E

Subjects
10036 Medical Clinic, 2723 Immunology and Allergy, 610 Medicine & health
Published
2019

45. The Konya Declaration for Patients with Primary Immunodeficiencies.

Author

Maródi, László, Abolhassani, Hassan, Aghamohamaddi, Asghar, Avcin, Tadej, Bataneant, Mihaela, Belevtsev, Mikhail, Bernatowska, Ewa, Bolkov, Mikhael, Bondarenko, Anastasiia, Boyarchuk, Oksana, Caliskaner, Zafer, Chernyshova, Liudmyla, Ciznar, Peter, El-Marsafy, Aisha, Erdős, Melinda, Galal, Nermeen, Gherghina, Ioan, Guseva, Marina, Iritsyan, Sevan, and Ismaili-Jaha, Vlora

Subjects
PRIMARY immunodeficiency diseases, MEDICAL personnel, CONTINUING medical education, MEDICAL students, JUVENILE diseases, SEVERE combined immunodeficiency
Abstract

Every year since 2004 when the J Project was launched, the growing interest and activity of devoted clinicians and scientists in Eastern and Central Europe (ECE) and elsewhere and their efforts to make a difference in the care of patients with primary immunodeficiencies (PIDs) in their regions and countries are clear [[1]]. 1 Schematic map of 30 J Project (JP) countries (green) and J Daughter countries (beige) that have joint the JP between 2004 and 2019 from Eurasia and Africa. (4) I A PID register i should be established in every J PROJECT country and, following diagnosis, data for all patients with proven PID disorders should be entered into national and international databases, primarily to the ESID Registry. [Extracted from the article]

Published
2020
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49. The extended clinical phenotype of 64 patients with DOCK8 deficiency

Author

Engelhardt, Karin R., Gertz, E. Michael, Keles, Sevgi, Schäffer, Alejandro A., Sigmund, Elena C., Glocker, Cristina, Saghafi, Shiva, Pourpak, Zahra, Ceja, Ruben, Sassi, Atfa, Graham, Laura E., Massaad, Michel J., Mellouli, Fethi, Ben-Mustapha, Imen, Khemiri, Monia, Kilic, Sara Sebnem, Etzioni, Amos, Freeman, Alexandra F., Thiel, Jens, Schulze, Ilka, Al-Herz, Waleed, Metin, Ayse, Sanal, Özden, Tezcan, Ilhan, Yeganeh, Mehdi, Niehues, Tim, Dueckers, Gregor, Weinspach, Sebastian, Patiroglu, Turkan, Unal, Ekrem, Dasouki, Majed, Yilmaz, Mustafa, Genel, Ferah, Aytekin, Caner, Kutukculer, Necil, Somer, Ayper, Kilic, Mehmet, Reisli, Ismail, Camcioglu, Yildiz, Gennery, Andrew R., Cant, Andrew J., Jones, Alison, Gaspar, H. Bobby, Arkwright, Peter D., Pietrogrande, Maria C., Baz, Zeina, Al-Tamemi, Salem, Lougaris, Vassilios, Lefranc, Gerard, Megarbane, Andre, Boutros, Jeannette, Galal, Nermeen, Bejaoui, Mohamed, Barbouche, Mohamed-Ridha, Geha, Raif S., Chatila, Talal A., and Grimbacher, Bodo

Subjects
Adult, CD4-Positive T-Lymphocytes, Male, STAT3 Transcription Factor, Support Vector Machine, Adolescent, CD8-Positive T-Lymphocytes, Skin Diseases, Article, Guanine Nucleotide Exchange Factors, Humans, Lymphocyte Count, Child, Antigens, Viral, Antigens, Bacterial, Infant, Bacterial Infections, Immunoglobulin E, Middle Aged, Survival Analysis, Eosinophils, Phenotype, Immunoglobulin M, Virus Diseases, Child, Preschool, Mutation, Female, Job Syndrome
Abstract

Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management.We sought to define the clinical features that distinguish DOCK8 deficiency from other forms of HIES and CIDs, study the mutational spectrum of DOCK8 deficiency, and report on the frequency of specific clinical findings.Eighty-two patients from 60 families with CID and the phenotype of AR-HIES with (64 patients) and without (18 patients) DOCK8 mutations were studied. Support vector machines were used to compare clinical data from 35 patients with DOCK8 deficiency with those from 10 patients with AR-HIES without a DOCK8 mutation and 64 patients with signal transducer and activator of transcription 3 (STAT3) mutations.DOCK8-deficient patients had median IgE levels of 5201 IU, high eosinophil levels of usually at least 800/μL (92% of patients), and low IgM levels (62%). About 20% of patients were lymphopenic, mainly because of low CD4(+) and CD8(+) T-cell counts. Fewer than half of the patients tested produced normal specific antibody responses to recall antigens. Bacterial (84%), viral (78%), and fungal (70%) infections were frequently observed. Skin abscesses (60%) and allergies (73%) were common clinical problems. In contrast to STAT3 deficiency, there were few pneumatoceles, bone fractures, and teething problems. Mortality was high (34%). A combination of 5 clinical features was helpful in distinguishing patients with DOCK8 mutations from those with STAT3 mutations.DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels who have a diagnosis of HIES plus hypereosinophilia and upper respiratory tract infections in the absence of parenchymal lung abnormalities, retained primary teeth, and minimal trauma fractures.

Published
2015

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