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1. Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry

Author

Scheible, Raphael, Kadioglu, Dennis, Ehl, Stephan, Blum, Marco, Boeker, Martin, Folz, Michael, Grimbacher, Bodo, Göbel, Jens, Klein, Christoph, Nieters, Alexandra, Rusch, Stephan, Kindle, Gerhard, and Storf, Holger

Subjects
Computer applications to medicine. Medical informatics, R858-859.7
Abstract

BackgroundThe German Network on Primary Immunodeficiency Diseases (PID-NET) utilizes the European Society for Immunodeficiencies (ESID) registry as a platform for collecting data. In the context of PID-NET data, we show how registries based on custom software can be made interoperable for better collaborative access to precollected data. The Open Source Registry System for Rare Diseases (Open-Source-Registersystem für Seltene Erkrankungen [OSSE], in German) provides patient organizations, physicians, scientists, and other parties with open source software for the creation of patient registries. In addition, the necessary interoperability between different registries based on the OSSE, as well as existing registries, is supported, which allows those registries to be confederated at both the national and international levels. ObjectiveData from the PID-NET registry should be made available in an interoperable manner without losing data sovereignty by extending the existing custom software of the registry using the OSSE registry framework. MethodsThis paper describes the following: (1) the installation and configuration of the OSSE bridgehead, (2) an approach using a free toolchain to set up the required interfaces to connect a registry with the OSSE bridgehead, and (3) the decentralized search, which allows the formulation of inquiries that are sent to a selected set of registries of interest. ResultsPID-NET uses the established and highly customized ESID registry software. By setting up a so-called OSSE bridgehead, PID-NET data are made interoperable according to a federated approach, and centrally formulated inquiries for data can be received. As the first registry to use the OSSE bridgehead, the authors introduce an approach using a free toolchain to efficiently implement and maintain the required interfaces. Finally, to test and demonstrate the system, two inquiries are realized using the graphical query builder. By establishing and interconnecting an OSSE bridgehead with the underlying ESID registry, confederated queries for data can be received and, if desired, the inquirer can be contacted to further discuss any requirements for cooperation. ConclusionsThe OSSE offers an infrastructure that provides the possibility of more collaborative and transparent research. The decentralized search functionality includes registries into one search application while still maintaining data sovereignty. The OSSE bridgehead enables any registry software to be integrated into the OSSE network. The proposed toolchain to set up the required interfaces consists of freely available software components that are well documented. The use of the decentralized search is uncomplicated to use and offers a well-structured, yet still improvable, graphical user interface to formulate queries.

Published
2020
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2. Evaluation of Laboratory and Sonographic Parameters for Detection of Portal Hypertension in Patients with Common Variable Immunodeficiency.

Author

Kindle, Gerhard, Goldacker, Sigune, von Spee-Mayer, Caroline, Proietti, Michele, Bausch, Birke, Bettinger, Dominik, Schultheiß, Michael, Thimme, Robert, Schuppan, Detlef, Warnatz, Klaus, Globig, Anna-Maria, Strohmeier, Valentina, Surabattula, Rambabu, Leeming, Diana, Karsdal, Morten, and Heeg, Maximilian

Subjects
Common variable immunodeficiency, diagnosis, hepatopathy, nodular regenerative hyperplasia, portal hypertension, Humans, Common Variable Immunodeficiency, Hypertension, Portal, Esophageal and Gastric Varices, Elasticity Imaging Techniques, Liver Cirrhosis, Liver
Abstract

Timely detection of portal hypertension as a manifestation in a subgroup of patients with common variable immunodeficiency (CVID) represents a challenge since it is usually not associated with liver cirrhosis. To identify relevant markers for portal hypertension, we evaluated clinical history, laboratory parameters, and abdominal ultrasound including liver elastography and biomarkers of extracellular matrix formation. Twenty seven (6%) of 479 CVID patients presented with clinically significant portal hypertension as defined by either the presence of esophageal varices or ascites. This manifestation occurred late during the course of the disease (11.8 years after first diagnosis of CVID) and was typically part of a multiorgan disease and associated with a high mortality (11/27 patients died during follow up). The strongest association with portal hypertension was found for splenomegaly with a longitudinal diameter of > 16 cm. Similarly, most patients presented with a liver stiffness measurement (LSM) of above 6.5 kPa, and a LSM above 20 kPa was always indicative of manifest portal hypertension. Additionally, many laboratory parameters including Pro-C4 were significantly altered in patients with portal hypertension without clearly increasing the discriminatory power to detect non-cirrhotic portal hypertension in CVID. Our data suggest that a spleen size above 16 cm and an elevated liver stiffness above 6.5 kPa should prompt further evaluation of portal hypertension and its sequelae, but earlier and better liquid biomarkers of this serious secondary complication in CVID are needed.

Published
2022

3. The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation

Author

Staus, Paulina, Rusch, Stephan, El-Helou, Sabine, Müller, Gabriele, Krausz, Máté, Geisen, Ulf, Caballero-Oteyza, Andrés, Krüger, Renate, Bakhtiar, Shahrzad, Lee-Kirsch, Min Ae, Fasshauer, Maria, Baumann, Ulrich, Hoyer, Bimba Franziska, Farela Neves, João, Borte, Michael, Carrabba, Maria, Hauck, Fabian, Ehl, Stephan, Bader, Peter, von Bernuth, Horst, Atschekzei, Faranaz, Seppänen, Mikko R. J., Warnatz, Klaus, Nieters, Alexandra, Kindle, Gerhard, and Grimbacher, Bodo

Published
2023
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5. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

Seidel, Markus G., Seppänen, Mikko R.J., Gennery, Andrew, Kanariou, Maria G., Tantou, Sofia, Grigoriadou, Sofia, Cericola, Gabriella, Hanitsch, Leif G., Scheibenbogen, Carmen, Hlaváčková, Eva O., Krivan, Gergely, McGuire, Frances K., Leahy, Timothy Ronan, Edgar, John David M., Bakhtiar, Shahrzad, Bader, Peter, Rohner, Geraldine Blanchard, Haerynck, Filomeen, Claes, Karlien, Lehmberg, Kai, Müller, Ingo, Farmand, Susan, Fasshauer, Maria, Graf, Dagmar, Neves, Joao Farela, Kostyuchenko, Larysa, Gonzalez-Granado, Luis Ignacio, Jeseňák, Miloš, Carrabba, Maria, Fabio, Giovanna, Pignata, Claudio, Giardino, Giuliana, Karadağ, Ilknur Kökçü, Yıldıran, Alişan, Hancioglu, Gonca, Králíčková, Pavlína, Steinmann, Sandra, Pietrucha, Barbara Maria, Gernert, Michael, Soomann, Maarja, Witte, Torsten, Markocsy, Adam, Wolska-Kusnierz, Beata, Randrianomenjanahary, Philippe, Rouger, Jérémie, Kostaridou, Stavroula, Zabara, Dariia V., Rodina, Yulia A., Shvets, Oksana A., Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W., Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S., Burns, Siobhan O., Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I., D’Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarström, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R., Kiykim, Ayca, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G., Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary A., Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, van Aerde, Koen J., van Montfrans, Joris, von Bernuth, Horst, Warnatz, Klaus, Williams, Tony, Worth, Austen J.J., Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., and Ehl, Stephan

Published
2023
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6. The Human Phenotype Ontology in 2021

Author

Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, and Robinson, Peter N

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Neurosciences, Neurodegenerative, Networking and Information Technology R&D (NITRD), Animals, Biological Ontologies, Computational Biology, Databases, Factual, Disease, Disease Models, Animal, Genome, Genotype, Humans, Infant, Newborn, International Cooperation, Internet, Neonatal Screening, Pharmacogenetics, Phenotype, Software, Terminology as Topic, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences
Abstract

The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.

Published
2021

7. Evaluation of Laboratory and Sonographic Parameters for Detection of Portal Hypertension in Patients with Common Variable Immunodeficiency

Author

Globig, Anna-Maria, Strohmeier, Valentina, Surabattula, Rambabu, Leeming, Diana J., Karsdal, Morten A., Heeg, Maximilian, Kindle, Gerhard, Goldacker, Sigune, von Spee-Mayer, Caroline, Proietti, Michele, Bausch, Birke, Bettinger, Dominik, Schultheiß, Michael, Thimme, Robert, Schuppan, Detlef, and Warnatz, Klaus

Published
2022
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9. 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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10. 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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12. Clinical efficacy of SARS‐CoV‐2 Omicron‐neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency.

Author

Karbiener, Michael, Kindle, Gerhard, Meyts, Isabelle, Seppänen, Mikko R. J., Candotti, Fabio, Kamieniak, Marta, Ilk, Reinhard, Kreil, Thomas R., and Seidel, Markus G.

Subjects
SARS-CoV-2, PRIMARY immunodeficiency diseases, COVID-19, AGAMMAGLOBULINEMIA, SARS-CoV-2 Omicron variant
Abstract

Immunocompromised individuals are at significantly elevated risk for severe courses of coronavirus disease 2019 (COVID‐19). In addition to vaccination, severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) neutralizing antibodies (nAbs) have been applied throughout the pandemic, with time of treatment onset and potency against the currently prevailing virus variant identified as relevant factors for medical benefit. Using data from the European Society for Immunodeficiencies (ESID) registry, the present study evaluated COVID‐19 cases in three groups of patients with inborn errors of immunity (IEI; 981 agammaglobulinemia patients on immunoglobulin replacement therapy (IGRT); 8960 non‐agammaglobulinemia patients on IGRT; 14 428 patients without IGRT), and the neutralizing capacity of 1100 immunoglobulin lots against SARS‐CoV‐2 ("Wuhan" and Omicron strains), throughout 3 years. From the first (2020/2021) to the second (2021/2022) cold season, i.e., during the virus drift to the more contagious Omicron variants, an increase in case numbers was recorded that was comparable (~2‐ to 3‐fold) for all three study groups. During the same period, immunoglobulin lots showed a profound nAb increase against the archetypal SARS‐CoV‐2 strain, yet only low levels of Omicron nAbs. Notably, shortly before the third (2022/2023) cold season, Omicron‐neutralizing capacity of released immunoglobulin lots had plateaued at high levels. From the second to the third cold season, COVID‐19 cases dropped markedly. While a ~6‐fold case reduction was recorded for the groups of non‐agammaglobulinemia patients on IGRT and IEI patients not receiving IGRT, the decline was ~30‐fold for the group of agammaglobulinemia patients on IGRT. These findings suggest a substantial COVID‐19‐protective effect of IGRT, at least for distinct groups of antibody‐deficient patients. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.

Author

Vakkilainen, Svetlana, Ahonen, Kira, Marsh, Rebecca, Secord, Elizabeth, Puck, Jennifer, Pozos, Tamara, Seroogy, Christine M., Sullivan, Kathleen E., Walkovich, Kelly, Hartog, Nicholas L., Lugar, Patricia, Herget, Theresia, Garcia-Prat, Marina, Martin-Nalda, Andrea, Ciznar, Peter, Edgar, John David, Candotti, Fabio, Hellige, Antje, Kindle, Gerhard, and Dabrowska-Leonik, Nel

Subjects
SEVERE combined immunodeficiency, RUBELLA, MORTALITY risk factors, HERPES simplex
Abstract

This study examines the clinical features and risk factors associated with early mortality in patients with cartilage-hair hypoplasia (CHH), a rare genetic disorder. The study compares data from three international registries and finds that uncontrolled Epstein-Barr virus (EBV) infection is the only factor significantly correlated with early mortality. The study also notes that allogeneic hematopoietic stem cell transplantation (HSCT) was more common in the USIDNET registry, and that the median age at latest follow-up was shortest in the USIDNET cohort. The study concludes that screening for EBV infection and early management of uncontrolled EBV proliferation should be considered in CHH patients. [Extracted from the article]

Published
2024
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14. Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie

Author

Shai, Sonu, Perez-Becker, Ruy, Andres, Oliver, Bakhtiar, Shahrzad, Bauman, Ulrich, von Bernuth, Horst, Classen, Carl-Friedrich, Dückers, Gregor, El-Helou, Sabine M., Gangfuß, Andrea, Ghosh, Sujal, Grimbacher, Bodo, Hauck, Fabian, Hoenig, Manfred, Husain, Ralf A., Kindle, Gerhard, Kipfmueller, Florian, Klemann, Christian, Krüger, Renate, Lainka, Elke, Lehmberg, Kai, Lohrmann, Florens, Morbach, Henner, Naumann-Bartsch, Nora, Oommen, Prasad Thomas, Schulz, Ansgar, Seidemann, Kathrin, Speckmann, Carsten, Sykora, Karl-Walter, von Kries, Rüdiger, and Niehues, Tim

Published
2020
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15. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

Author

Abinun, Mario, Albert, Michael, Cohen, Sarah Beaussant, Bustamante, Jacinta, Cant, Andrew, Casanova, Jean-Laurent, Chapel, Helen, de Saint Basile, Genevieve, de Vries, Esther, Dokal, Inderjeet, Donadieu, Jean, Durandy, Anne, Edgar, David, Espanol, Teresa, Etzioni, Amos, Fischer, Alain, Gaspar, Bobby, Gatti, Richard, Gennery, Andrew, Grigoriadou, Sofia, Holland, Steven, Janka, Gritta, Kanariou, Maria, Klein, Christoph, Lachmann, Helen, Lilic, Desa, Manson, Ania, Martinez, Natalia, Meyts, Isabelle, Moes, Nicolette, Moshous, Despina, Neven, Benedicte, Ochs, Hans, Picard, Capucine, Renner, Ellen, Rieux-Laucat, Frederic, Seger, Reinhard, Soresina, Annarosa, Stoppa-Lyonnet, Dominique, Thon, Vojtech, Thrasher, Adrian, van de Veerdonk, Frank, Villa, Anna, Weemaes, Corry, Warnatz, Klaus, Wolska, Beata, Zhang, Shen-Yin, Seidel, Markus G., Kindle, Gerhard, Gathmann, Benjamin, Quinti, Isabella, Buckland, Matthew, van Montfrans, Joris, Scheible, Raphael, Rusch, Stephan, Gasteiger, Lukas M., Grimbacher, Bodo, Mahlaoui, Nizar, and Ehl, Stephan

Published
2019
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17. Pre‐existing sleep problems as a predictor of post‐acute sequelae of COVID‐19.

Author

Schilling, Claudia, Nieters, Alexandra, Schredl, Michael, Peter, Raphael S., Rothenbacher, Dietrich, Brockmann, Stefan O., Göpel, Siri, Kindle, Gerhard, Merle, Uta, Steinacker, Jürgen M., Kern, Winfried, August, Dietrich, Bauer, Christoph, Blankenhorn, Benedict, Bopp‐Haas, Ulrike, Bunk, Stefanie, Deibert, Peter, Dietz, Armin, Friedmann‐Bette, Birgit, and Giesen, Roland

Subjects
SARS-CoV-2, SLEEP, DROWSINESS, COVID-19, SLEEP interruptions
Abstract

Summary: Several months after COVID‐19 many individuals still report persisting symptoms, the so‐called 'post‐COVID‐19 syndrome'. An immunological dysfunction is one of the main pathophysiological hypotheses. As sleep is central to the functioning of the immune system, we investigated whether self‐reported pre‐existing sleep disturbance might be an independent risk factor for the development of post‐COVID‐19 syndrome. A total of 11,710 participants of a cross‐sectional survey (all tested positive for severe acute respiratory syndrome coronavirus‐2) were classified into probable post‐COVID‐19 syndrome, an intermediate group, and unaffected participants at an average of 8.5 months after infection. The case definition was based on newly occurring symptoms of at least moderate severity and ≥20% reduction in health status and/or working capacity. Unadjusted and adjusted odds ratios were calculated to investigate the association between pre‐existing sleep disturbances and subsequent development of post‐COVID‐19 syndrome while controlling for a variety of demographic, lifestyle, and health factors. Pre‐existing sleep disturbances were found to be an independent predictor of subsequent probable post‐COVID‐19 syndrome (adjusted odds ratio 2.7, 95% confidence interval 2.27–3.24). Sleep disturbances as part of the post‐COVID‐19 syndrome were reported by more than half of the participants and appeared to be a new symptom and to occur independent of a mood disorder in most cases. Recognition of disturbed sleep as an important risk factor for post‐COVID‐19 syndrome should promote improved clinical management of sleep disorders in the context of COVID‐19. Further, it may stimulate further research on the effect of improving sleep on the prognosis of COVID‐19 long‐term sequelae and other post‐viral conditions. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Post-COVID syndrome and work ability 9-12 months after a SARS-CoV-2 infection among over 9000 employees from the general population

Author

Braig, Stefanie, primary, Peter, Raphael S., additional, Nieters, Alexandra, additional, Kräusslich, Hans-Georg, additional, Brockmann, Stefan O., additional, Göpel, Siri, additional, Kindle, Gerhard, additional, Merle, Uta, additional, Steinacker, Jürgen M., additional, Kern, Winfried V., additional, and Rothenbacher, Dietrich, additional

Published
2023
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20. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

Maccari, Maria Elena, primary, Wolkewitz, Martin, additional, Schwab, Charlotte, additional, Lorenzini, Tiziana, additional, Leiding, Jennifer W., additional, Aladjdi, Nathalie, additional, Abolhassani, Hassan, additional, Abou-Chahla, Wadih, additional, Aiuti, Alessandro, additional, Azarnoush, Saba, additional, Baris, Safa, additional, Barlogis, Vincent, additional, Barzaghi, Federica, additional, Baumann, Ulrich, additional, Bloomfield, Marketa, additional, Bohynikova, Nadezda, additional, Bodet, Damien, additional, Boutboul, David, additional, Bucciol, Giorgia, additional, Buckland, Matthew S., additional, Burns, Siobhan O., additional, Cancrini, Caterina, additional, Cathébras, Pascal, additional, Cavazzana, Marina, additional, Cheminant, Morgane, additional, Chinello, Matteo, additional, Ciznar, Peter, additional, Coulter, Tanya I., additional, D’Aveni, Maud, additional, Ekwall, Olov, additional, Eric, Zelimir, additional, Eren, Efrem, additional, Fasth, Anders, additional, Frange, Pierre, additional, Fournier, Benjamin, additional, Garcia-Prat, Marina, additional, Gardembas, Martine, additional, Geier, Christoph, additional, Ghosh, Sujal, additional, Goda, Vera, additional, Hammarström, Lennart, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heropolitanska-Pliszka, Edyta, additional, Hilfanova, Anna, additional, Jolles, Stephen, additional, Karakoc-Aydiner, Elif, additional, Kindle, Gerhard R., additional, Kiykim, Ayca, additional, Klemann, Christian, additional, Koletsi, Patra, additional, Koltan, Sylwia, additional, Kondratenko, Irina, additional, Körholz, Julia, additional, Krüger, Renate, additional, Jeziorski, Eric, additional, Levy, Romain, additional, Le Guenno, Guillaume, additional, Lefevre, Guillaume, additional, Lougaris, Vassilios, additional, Marzollo, Antonio, additional, Mahlaoui, Nizar, additional, Malphettes, Marion, additional, Meinhardt, Andrea, additional, Merlin, Etienne, additional, Meyts, Isabelle, additional, Milota, Tomas, additional, Moreira, Fernando, additional, Moshous, Despina, additional, Mukhina, Anna, additional, Neth, Olaf, additional, Neubert, Jennifer, additional, Neven, Benedicte, additional, Nieters, Alexandra, additional, Nove-Josserand, Raphaele, additional, Oksenhendler, Eric, additional, Ozen, Ahmet, additional, Olbrich, Peter, additional, Perlat, Antoinette, additional, Pac, Malgorzata, additional, Schmid, Jana Pachlopnik, additional, Pacillo, Lucia, additional, Parra-Martinez, Alba, additional, Paschenko, Olga, additional, Pellier, Isabelle, additional, Sefer, Asena Pinar, additional, Plebani, Alessandro, additional, Plantaz, Dominique, additional, Prader, Seraina, additional, Raffray, Loic, additional, Ritterbusch, Henrike, additional, Riviere, Jacques G., additional, Rivalta, Beatrice, additional, Rusch, Stephan, additional, Sakovich, Inga, additional, Savic, Sinisa, additional, Scheible, Raphael, additional, Schleinitz, Nicolas, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Sediva, Anna, additional, Semeraro, Michaela, additional, Sharapova, Svetlana O., additional, Shcherbina, Anna, additional, Slatter, Mary A., additional, Sogkas, Georgios, additional, Soler-Palacin, Pere, additional, Speckmann, Carsten, additional, Stephan, Jean-Louis, additional, Suarez, Felipe, additional, Tommasini, Alberto, additional, Trück, Johannes, additional, Uhlmann, Annette, additional, van Aerde, Koen J., additional, van Montfrans, Joris, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Williams, Tony, additional, Worth, Austen J.J., additional, Ip, Winnie, additional, Picard, Capucine, additional, Catherinot, Emilie, additional, Nademi, Zohreh, additional, Grimbacher, Bodo, additional, Forbes Satter, Lisa R., additional, Kracker, Sven, additional, Chandra, Anita, additional, Condliffe, Alison M., additional, Ehl, Stephan, additional, Seidel, Markus G., additional, Seppänen, Mikko R.J., additional, Gennery, Andrew, additional, Kanariou, Maria G., additional, Tantou, Sofia, additional, Grigoriadou, Sofia, additional, Cericola, Gabriella, additional, Hanitsch, Leif G., additional, Scheibenbogen, Carmen, additional, Hlaváčková, Eva O., additional, Krivan, Gergely, additional, McGuire, Frances K., additional, Leahy, Timothy Ronan, additional, Edgar, John David M., additional, Bakhtiar, Shahrzad, additional, Bader, Peter, additional, Rohner, Geraldine Blanchard, additional, Haerynck, Filomeen, additional, Claes, Karlien, additional, Lehmberg, Kai, additional, Müller, Ingo, additional, Farmand, Susan, additional, Fasshauer, Maria, additional, Graf, Dagmar, additional, Neves, Joao Farela, additional, Kostyuchenko, Larysa, additional, Gonzalez-Granado, Luis Ignacio, additional, Jeseňák, Miloš, additional, Carrabba, Maria, additional, Fabio, Giovanna, additional, Pignata, Claudio, additional, Giardino, Giuliana, additional, Karadağ, Ilknur Kökçü, additional, Yıldıran, Alişan, additional, Hancioglu, Gonca, additional, Králíčková, Pavlína, additional, Steinmann, Sandra, additional, Pietrucha, Barbara Maria, additional, Gernert, Michael, additional, Soomann, Maarja, additional, Witte, Torsten, additional, Markocsy, Adam, additional, Wolska-Kusnierz, Beata, additional, Randrianomenjanahary, Philippe, additional, Rouger, Jérémie, additional, Kostaridou, Stavroula, additional, Zabara, Dariia V., additional, Rodina, Yulia A., additional, and Shvets, Oksana A., additional

Published
2023
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21. Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

Author

García-García, Ana, Pérez de Diego, Rebeca, Flores, Carlos, Rinchai, Darawan, Solé-Violán, Jordi, Deyà-Martínez, Àngela, García-Solis, Blanca, Lorenzo-Salazar, José M., Hernández-Brito, Elisa, Lanz, Anna-Lisa, Moens, Leen, Bucciol, Giorgia, Almuqamam, Mohamed, Domachowske, Joseph B., Colino, Elena, Santos-Perez, Juan Luis, Marco, Francisco M., Pignata, Claudio, Bousfiha, Aziz, Turvey, Stuart E., Bauer, Stefanie, Haerynck, Filomeen, Ocejo-Vinyals, Javier Gonzalo, Lendinez, Francisco, Prader, Seraina, Naumann-Bartsch, Nora, Pachlopnik Schmid, Jana, Biggs, Catherine M., Hildebrand, Kyla, Dreesman, Alexandra, Cárdenes, Miguel Ángel, Ailal, Fatima, Benhsaien, Ibtihal, Giardino, Giuliana, Molina-Fuentes, Agueda, Fortuny, Claudia, Madhavarapu, Swetha, Conway, Daniel H., Prando, Carolina, Schidlowski, Laire, Martínez de Saavedra Álvarez, María Teresa, Alfaro, Rafael, Rodríguez de Castro, Felipe, Kindle, Gerhard, Mahlaoui, Nizar, Seidel, Markus G., Vassilios, Lougaris, Seppänen, Mikko R.J., Abel, Laurent, Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Anderson, Mark S., Andreakos, Evangelos, Arias, Andrés A., Baris Feldman, Hagit, Belot, Alexandre, Bogunovic, Dusan, Bolze, Alexandre, Bondarenko, Anastasiia, Bousfiha, Ahmed A., Brodin, Petter, Bryceson, Yenan, Bustamante, Carlos D., Butte, Manish J., Casari, Giorgio, Christodoulou, John, Condino-Neto, Antonio, Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Desai, Murkesh, Drolet, Beth A., El Baghdadi, Jamila, Espinosa-Padilla, Sara, Fellay, Jacques, Franco, José Luis, Froidure, Antoine, Gregersen, Peter K., Grimbacher, Bodo, Hagin, David, Halwani, Rabih, Hammarström, Lennart, Heath, James R., Henrickson, Sarah E., Hsieh, Elena W.Y., Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jarvis, Erich D., Karamitros, Timokratis, Kisand, Kai, Ku, Cheng-Lung, Lau, Yu-Lung, Ling, Yun, Lucas, Carrie L., Maniatis, Tom, Mansouri, Davood, Meyts, Isabelle, Milner, Joshua D., Mironska, Kristina, Mogensen, Trine H., Morio, Tomohiro, Ng, Lisa F.P., Notarangelo, Luigi D., Novelli, Antonio, Novelli, Giuseppe, O’Farrelly, Cliona, Okada, Satoshi, Okamoto, Keisuke, Ozcelik, Tayfun, Pan-Hammarström, Qiang, Pape, Jean W., Perez de Diego, Rebecca, Perlin, David S., Pesole, Graziano, Planas, Anna M., Pujol, Aurora, Quintana-Murci, Lluis, Ramaswamy, Sathishkumar, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänan, Mikko R.J., Shahrooei, Mohammed, Shcherbina, Anna, Slaby, Ondrej, Snow, Andrew L., Soler-Palacín, Pere, Spaan, András N., Tancevski, Ivan, Tangye, Stuart G., Tayoun, Ahmad Abou, Uddin, K M Furkan, Uddin, Mohammed J., van de Beek, Diederik, Vinh, Donald C., von Bernuth, Horst, Wauters, Joost, Zatz, Mayana, Zawadzki, Pawel, Su, Helen C., Casanova, Jean-Laurent, Hauck, Fabian, Puel, Anne, Bastard, Paul, Boisson, Bertrand, Jouanguy, Emmanuelle, Cobat, Aurélie, Zhang, Qian, Alsina, Laia, ESID Registry Working Party, [missing], COVID Human Genetic Effort, [missing], AII - Infectious diseases, Amsterdam Neuroscience - Neuroinfection & -inflammation, and Neurology

Subjects
SARS-CoV-2, Immunology, Signal Transducing, COVID-19, Adaptor Proteins, Settore MED/03, Toll-Like Receptor 7, Myeloid Differentiation Factor 88, Medicine and Health Sciences, COVID-19/complications, Immunology and Allergy, Humans, Myeloid Differentiation Factor 88/genetics, Child, Adaptor Proteins, Signal Transducing
Abstract

X-linked recessive deficiency of TLR7, a MyD88- and IRAK-4-dependent endosomal ssRNA sensor, impairs SARS-CoV-2 recognition and type I IFN production in plasmacytoid dendritic cells (pDCs), thereby underlying hypoxemic COVID-19 pneumonia with high penetrance. We report 22 unvaccinated patients with autosomal recessive MyD88 or IRAK-4 deficiency infected with SARS-CoV-2 (mean age: 10.9 yr; 2 mo to 24 yr), originating from 17 kindreds from eight countries on three continents. 16 patients were hospitalized: six with moderate, four with severe, and six with critical pneumonia, one of whom died. The risk of hypoxemic pneumonia increased with age. The risk of invasive mechanical ventilation was also much greater than in age-matched controls from the general population (OR: 74.7, 95% CI: 26.8-207.8, P < 0.001). The patients' susceptibility to SARS-CoV-2 can be attributed to impaired TLR7-dependent type I IFN production by pDCs, which do not sense SARS-CoV-2 correctly. Patients with inherited MyD88 or IRAK-4 deficiency were long thought to be selectively vulnerable to pyogenic bacteria, but also have a high risk of hypoxemic COVID-19 pneumonia. ispartof: JOURNAL OF EXPERIMENTAL MEDICINE vol:220 issue:5 ispartof: location:United States status: published

Published
2023

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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26. 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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27. Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

Author

Yang, Linlin, primary, Booth, Claire, additional, Speckmann, Carsten, additional, Seidel, Markus G., additional, Worth, Austen J.J., additional, Kindle, Gerhard, additional, Lankester, Arjan C., additional, Grimbacher, Bodo, additional, Gennery, Andrew R., additional, Seppanen, Mikko R.J., additional, Morris, Emma C., additional, Burns, Siobhan O., additional, Sediva, Anna, additional, Neven, Benedicte, additional, Hauck, Fabian, additional, Warnatz, Klaus, additional, Pac, Malgorzata, additional, Carrabba, Maria, additional, Palacin, Pere, additional, Jandus, Peter, additional, Gardulf, Ann, additional, Mahlaoui, Nizar, additional, Pergent, Martine, additional, Schutz, Catharina, additional, Sharapova, Svetlana, additional, Vassilios, Lougaris, additional, Candotti, Fabio, additional, and Volpi, Stephano, additional

Published
2022
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28. Association of BMI with general health, working capacity recovered, and post‐acute sequelae of COVID‐19.

Author

Peter, Raphael S., Nieters, Alexandra, Brockmann, Stefan O., Göpel, Siri, Kindle, Gerhard, Merle, Uta, Steinacker, Jürgen M., Kern, Winfried V., and Rothenbacher, Dietrich

Subjects
POST-acute COVID-19 syndrome, COVID-19, DISEASE complications, STATURE, BODY weight
Abstract

Objective: The aim of this study was to determine the risk of post‐acute sequelae of COVID‐19 associated with the continuous spectrum of BMI. Methods: Epidemiology of Long COVID (EPILOC) is a population‐based study conducted in Baden‐Württemberg (Germany), including subjects aged 18 to 65 years who tested positive for SARS‐CoV‐2 between October 2020 and April 2021. Eligible subjects answered a standardized questionnaire, including sociodemographic characteristics, lifestyle factors, and the presence of specific symptoms. Participants assessed their current general health recovery and working capacity compared with the pre‐infection situation and provided their body height and weight. Generalized additive models were used to assess the association of BMI with general health recovered, working capacity recovered, and prevalence of fatigue, cognitive impairment, and chest symptoms. Results: The analyses included 11,296 individuals (41% male), with a mean age of 44.0 (SD 13.7) years. Best general health recovery was observed at BMI of 22.1 (95% CI: 21.0‐27.0) kg/m2 in men and BMI of 21.6 (95% CI: 20.3‐23.1) kg/m2 in women. In addition, we found that increasing BMI was consistently associated with post‐COVID fatigue, neurocognitive impairment, and chest symptoms. Conclusions: High BMI contributes to impaired recovery after SARS‐CoV‐2 infection; however, a low BMI is associated with impaired recovery as well. [ABSTRACT FROM AUTHOR]

Published
2023
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30. 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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31. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Seppänen, Mikko R. J., Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, and Mahlaoui, Nizar

Subjects
prirojene okvare imunosti, primarne imunske pomanjkljivosti, registries, udc:616-097, primary immunodeficiency, immunity, avtoimunske bolezni, imunost, signs and symptoms, inborn error of immunity, inflammation, immune dysregulation, znaki in simptomi, autoimmune diseases, vnetje, registri, imunska disregulacija
Abstract

Background. Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations. Objective. We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods. We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered. Results. Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years. Conclusions. An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.

Published
2021

33. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Universidad de Sevilla. Departamento de Farmacología, Pediatría y Radiología, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Seppänen, Mikko R.J., Olbrich, Peter, Universidad de Sevilla. Departamento de Farmacología, Pediatría y Radiología, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Seppänen, Mikko R.J., and Olbrich, Peter

Abstract

Background Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations. Objective We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered. Results Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years. Conclusions An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.

Published
2021

35. The Human Phenotype Ontology in 2021

Author

Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, and Robinson, Peter N

Subjects
endocrine system, Genotype, International Cooperation, Neurodegenerative, Databases, Neonatal Screening, Terminology as Topic, Information and Computing Sciences, Animals, Humans, Disease, Factual, Internet, Genome, Animal, fungi, Computational Biology, Infant, Biological Sciences, Newborn, equipment and supplies, body regions, Phenotype, Networking and Information Technology R&D, Networking and Information Technology R&D (NITRD), Biological Ontologies, Pharmacogenetics, Disease Models, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Software, Environmental Sciences, Developmental Biology
Abstract

The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.

Published
2020

36. Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe „Register“ des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE)

Author

NAMSE-Register-Strategiegruppe, Storf, Holger, Stausberg, Jürgen, Kindle, Gerhard, Quadder, Bernd, Schlangen, Miriam, Walter, Maggie C., Ückert, Frank, Wagner, Thomas O. F., NAMSE-Register-Strategiegruppe, Storf, Holger, Stausberg, Jürgen, Kindle, Gerhard, Quadder, Bernd, Schlangen, Miriam, Walter, Maggie C., Ückert, Frank, and Wagner, Thomas O. F.

Abstract

Der Nationale Aktionsplan für Menschen mit Seltenen Erkrankungen (SE) enthält 52 konkrete Maßnahmen, u. a. in den Handlungsfeldern Versorgung, Forschung, Diagnose und Informationsmanagement. Mit dem Ziel, langfristig die Qualität und Interoperabilität von nationalen Registern zu erhöhen, sieht Maßnahmenvorschlag 28 die Etablierung einer Strategiegruppe „Register für Seltene Erkrankungen“ vor. Diese Strategiegruppe hat 2016 ihre Arbeit aufgenommen. Sie berichtet hier über Entwicklungen auf nationaler und internationaler Ebene, um Empfehlungen für nationale Initiativen daraus abzuleiten. Zusätzlich werden die Konsentierung und Implementierung sowie mit der Zeit ggf. die Anpassung eines Minimaldatensatzes zur Verwendung in Registern für Seltene Erkrankungen erläutert. Zusätzlich werden die verwendeten Datenelemente bzw. -schemata in einem sog. Metadata Repository abgebildet. Dieses Positionspapier wurde durch die Strategiegruppe sowie weitere Autoren erarbeitet und innerhalb der Gruppe konsentiert. Es wird als Konzeptpapier zum Aufbau und Betrieb von Registern der Strategiegruppe „Register“ veröffentlicht., The National Action Plan for People with Rare Diseases contains 52 concrete actions, including in the fields of care, research, diagnosis, and information management. With the aim of improving the quality and interoperability of national registries in the long term, action 28 proposed the establishment of a “Rare Diseases Registry” strategy group. The strategy group began its work in 2016. In this report, the group takes into account developments at the national and international level in order to develop recommendations for national initiatives. In addition to this, the group reports on consent and implementation as well as on the adaptation of a minimal dataset for use in rare disease registries and mapping the used data elements and schemata in a metadata repository. This position paper was created by the strategy group together with additional authors. The paper reached a consensus within the strategy group and can be seen as a concept paper of the Rare Diseases Registry strategy group.

Published
2020

37. The Human Phenotype Ontology in 2021

Author

Köhler, Sebastian, primary, Gargano, Michael, additional, Matentzoglu, Nicolas, additional, Carmody, Leigh C, additional, Lewis-Smith, David, additional, Vasilevsky, Nicole A, additional, Danis, Daniel, additional, Balagura, Ganna, additional, Baynam, Gareth, additional, Brower, Amy M, additional, Callahan, Tiffany J, additional, Chute, Christopher G, additional, Est, Johanna L, additional, Galer, Peter D, additional, Ganesan, Shiva, additional, Griese, Matthias, additional, Haimel, Matthias, additional, Pazmandi, Julia, additional, Hanauer, Marc, additional, Harris, Nomi L, additional, Hartnett, Michael J, additional, Hastreiter, Maximilian, additional, Hauck, Fabian, additional, He, Yongqun, additional, Jeske, Tim, additional, Kearney, Hugh, additional, Kindle, Gerhard, additional, Klein, Christoph, additional, Knoflach, Katrin, additional, Krause, Roland, additional, Lagorce, David, additional, McMurry, Julie A, additional, Miller, Jillian A, additional, Munoz-Torres, Monica C, additional, Peters, Rebecca L, additional, Rapp, Christina K, additional, Rath, Ana M, additional, Rind, Shahmir A, additional, Rosenberg, Avi Z, additional, Segal, Michael M, additional, Seidel, Markus G, additional, Smedley, Damian, additional, Talmy, Tomer, additional, Thomas, Yarlalu, additional, Wiafe, Samuel A, additional, Xian, Julie, additional, Yüksel, Zafer, additional, Helbig, Ingo, additional, Mungall, Christopher J, additional, Haendel, Melissa A, additional, and Robinson, Peter N, additional

Published
2020
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39. Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry (Preprint)

Author

Scheible, Raphael, primary, Kadioglu, Dennis, additional, Ehl, Stephan, additional, Blum, Marco, additional, Boeker, Martin, additional, Folz, Michael, additional, Grimbacher, Bodo, additional, Göbel, Jens, additional, Klein, Christoph, additional, Nieters, Alexandra, additional, Rusch, Stephan, additional, Kindle, Gerhard, additional, and Storf, Holger, additional

Published
2019
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40. The German National Registry of Primary Immunodeficiencies (2012-2017)

Author

El-Helou, Sabine M., Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan R., Heeg, Maximilian, Maccari, Maria E., Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schuermann, Gesine, Sogkas, Georgios, Baumann, Ulrich H., Klemann, Christian, Viemann, Dorothee, von Bernuth, Horst, Krueger, Renate, Hanitsch, Leif G., Scheibenbogen, Carmen M., Wittke, Kirsten, Albert, Michael H., Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz M., Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Mueller, Anna H., Uelzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Hess, Ursula, Schubert, Ralf, Woelke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Juergen, Neubert, Jennifer, Oommen, Prasad T., Hoenig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dueckers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Mueglich, Carmen, Schmalzing, Marc T., Schwaneck, Eva C., Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G., Morbach, Henner, Foell, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian M., Mueller, Christiane, Roesen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Joerg, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Juergen K., Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Huelsmann, Brigitte, Schoenberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, von Bismarck, Philipp, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas E., Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Mueller, Ingo, Herrmann, Friedrich, Horneff, Gerd, Klein, Ariane, Peitz, Joachim, Schmidt, Nadine, Bielack, Stefan, Gross-Wieltsch, Ute, Classen, Carl F., Klasen, Jessica, Deutz, Peter, Kamitz, Dirk, Lassay, Lisa, Tenbrock, Klaus, Wagner, Norbert, Bernbeck, Benedikt, Brummel, Bastian, Lara-Villacanas, Eusebia, Muenstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiss, Michael, Kramm, Christof, Kuehnle, Ingrid, Kullmann, Silke, Girschick, Hermann, Specker, Christof, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Mueller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard, Grimbacher, Bodo, El-Helou, Sabine M., Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan R., Heeg, Maximilian, Maccari, Maria E., Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schuermann, Gesine, Sogkas, Georgios, Baumann, Ulrich H., Klemann, Christian, Viemann, Dorothee, von Bernuth, Horst, Krueger, Renate, Hanitsch, Leif G., Scheibenbogen, Carmen M., Wittke, Kirsten, Albert, Michael H., Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz M., Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Mueller, Anna H., Uelzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Hess, Ursula, Schubert, Ralf, Woelke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Juergen, Neubert, Jennifer, Oommen, Prasad T., Hoenig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dueckers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Mueglich, Carmen, Schmalzing, Marc T., Schwaneck, Eva C., Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G., Morbach, Henner, Foell, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian M., Mueller, Christiane, Roesen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Joerg, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Juergen K., Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Huelsmann, Brigitte, Schoenberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, von Bismarck, Philipp, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas E., Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Mueller, Ingo, Herrmann, Friedrich, Horneff, Gerd, Klein, Ariane, Peitz, Joachim, Schmidt, Nadine, Bielack, Stefan, Gross-Wieltsch, Ute, Classen, Carl F., Klasen, Jessica, Deutz, Peter, Kamitz, Dirk, Lassay, Lisa, Tenbrock, Klaus, Wagner, Norbert, Bernbeck, Benedikt, Brummel, Bastian, Lara-Villacanas, Eusebia, Muenstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiss, Michael, Kramm, Christof, Kuehnle, Ingrid, Kullmann, Silke, Girschick, Hermann, Specker, Christof, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Mueller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard, and Grimbacher, Bodo

Abstract

Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata((R)) and Excel. Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1-25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0-88 years). Presenting symptoms comprised infections (74%) and immune dysregulation (22%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE-syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49% of all patients received immunoglobulin G (IgG) substitution (70%-subcutaneous; 29%-intravenous; 1%-unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy. Conclusion: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a m

Published
2019

41. The German national registry of primary immunodeficiencies (2012–2017)

Author

Al-Herz, Waleed, El-Helou, Sabine M., Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan, Heeg, Maximilian, Maccari, Maria E., Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schürmann, Gesine, Sogkas, Georgios, Baumann, Ulrich, Klemann, Christian, Viemann, Dorothee, Bernuth, Horst von, Krüger, Renate, Hanitsch, Leif Gunnar, Scheibenbogen, Carmen, Wittke, Kirsten, Albert, Michael H., Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz, Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Müller, Anna H., Ülzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Heß, Ursula, Schubert, Ralf, Wölke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Jürgen, Neubert, Jennifer, Oommen, Prasad Thomas, Hönig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dückers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Müglich, Carmen, Schmalzing, Marc, Schwaneck, Eva C., Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G., Morbach, Henner, Föll, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian Michael, Müller, Christiane, Rösen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Jörg Christoph, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Jürgen, Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Hülsmann, Brigitte, Schönberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, Bismarck, Philipp von, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas, Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Müller, Ingo, Herrmann, Friedrich, Horneff, Gerd, Klein, Ariane, Peitz, Joachim, Schmidt, Nadine, Bielack, Stefan S., Groß-Wieltsch, Ute, Classen, Carl Friedrich, Klasen, Jessica, Deutz, Peter, Kamitz, Dirk, Lassay, Lisa, Tenbrock, Klaus, Wagner, Norbert, Bernbeck, Benedikt, Brummel, Bastian, Lara-Villacanas, Eusebia, Münstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiß, Michael, Kramm, Christof M., Kühnle, Ingrid, Kullman, Silke, Girschick, Hermann, Specker, Christof, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Müller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard, Grimbacher, Bodo, Al-Herz, Waleed, El-Helou, Sabine M., Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan, Heeg, Maximilian, Maccari, Maria E., Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schürmann, Gesine, Sogkas, Georgios, Baumann, Ulrich, Klemann, Christian, Viemann, Dorothee, Bernuth, Horst von, Krüger, Renate, Hanitsch, Leif Gunnar, Scheibenbogen, Carmen, Wittke, Kirsten, Albert, Michael H., Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz, Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Müller, Anna H., Ülzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Heß, Ursula, Schubert, Ralf, Wölke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Jürgen, Neubert, Jennifer, Oommen, Prasad Thomas, Hönig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dückers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Müglich, Carmen, Schmalzing, Marc, Schwaneck, Eva C., Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G., Morbach, Henner, Föll, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian Michael, Müller, Christiane, Rösen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Jörg Christoph, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Jürgen, Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Hülsmann, Brigitte, Schönberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, Bismarck, Philipp von, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas, Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Müller, Ingo, Herrmann, Friedrich, Horneff, Gerd, Klein, Ariane, Peitz, Joachim, Schmidt, Nadine, Bielack, Stefan S., Groß-Wieltsch, Ute, Classen, Carl Friedrich, Klasen, Jessica, Deutz, Peter, Kamitz, Dirk, Lassay, Lisa, Tenbrock, Klaus, Wagner, Norbert, Bernbeck, Benedikt, Brummel, Bastian, Lara-Villacanas, Eusebia, Münstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiß, Michael, Kramm, Christof M., Kühnle, Ingrid, Kullman, Silke, Girschick, Hermann, Specker, Christof, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Müller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard, and Grimbacher, Bodo

Abstract

Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel. Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1–25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0–88 years). Presenting symptoms comprised infections (74%) and immune dysregulation (22%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE- syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49% of all patients received immunoglobulin G (IgG) substitution (70%—subcutaneous; 29%—intravenous; 1%—unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy. Conclusion: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a more

Published
2019

42. Gesundheitskompetenz bei Patienten mit Variablem Immundefekt Syndrom (CVID)

Author

Tinsel, Iris, Bayrhuber, Marianne, Farin-Glattacker, Erik, Kindle, Gerhard, Goldacker, Sigune, Grimbacher, Bodo, Warnatz, Klaus, and Nieters, Alexandra

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Hintergrund: CVID ist die häufigste Diagnose unter den angeborenen Immundefekten, mit einer geschätzten Prävalenz zwischen 1:100.000 und 1:10.000. Die Patienten haben einen Mangel an Immunglobulinen (Ig) und sind hierdurch anfällig für bakterielle Infektionen. Über 30%[zum vollständigen Text gelangen Sie über die oben angegebene URL], 17. Deutscher Kongress für Versorgungsforschung (DKVF)

Published
2018

43. Additional file 3: of The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

Author

Odnoletkova, Irina, Kindle, Gerhard, Quinti, Isabella, Grimbacher, Bodo, Knerr, Viviane, Gathmann, Benjamin, Ehl, Stephan, Mahlaoui, Nizar, Wilder, Philippe Van, Bogaerts, Kris, and Vries, Esther De

Subjects
mental disorders
Abstract

Table: Prevalence rates of CVID comorbidities. (DOCX 15 kb)

Published
2018
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44. Additional file 2: of The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

Author

Odnoletkova, Irina, Kindle, Gerhard, Quinti, Isabella, Grimbacher, Bodo, Knerr, Viviane, Gathmann, Benjamin, Ehl, Stephan, Mahlaoui, Nizar, Wilder, Philippe Van, Bogaerts, Kris, and Vries, Esther De

Abstract

Table: Rates of death and Years of Life Lost to all-cause mortality in the CVID cohort and the general population, per 5-year age interval. (DOCX 17 kb)

Published
2018
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46. Additional file 4: of The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

Author

Odnoletkova, Irina, Kindle, Gerhard, Quinti, Isabella, Grimbacher, Bodo, Knerr, Viviane, Gathmann, Benjamin, Ehl, Stephan, Mahlaoui, Nizar, Wilder, Philippe Van, Bogaerts, Kris, and Vries, Esther De

Abstract

Table: Age standardized rate of prevalence of comorbidities and Years Lost to Disability in the CVID cohort and the general population. (DOCX 27 kb)

Published
2018
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47. Additional file 1: of The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

Author

Odnoletkova, Irina, Kindle, Gerhard, Quinti, Isabella, Grimbacher, Bodo, Knerr, Viviane, Gathmann, Benjamin, Ehl, Stephan, Mahlaoui, Nizar, Wilder, Philippe Van, Bogaerts, Kris, and Vries, Esther De

Abstract

Overview of the ESID registry data used in this study. (DOCX 14 kb)

Published
2018
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50. The German National Registry of Primary Immunodeficiencies (2012–2017)

Author

El-Helou, Sabine M., primary, Biegner, Anika-Kerstin, additional, Bode, Sebastian, additional, Ehl, Stephan R., additional, Heeg, Maximilian, additional, Maccari, Maria E., additional, Ritterbusch, Henrike, additional, Speckmann, Carsten, additional, Rusch, Stephan, additional, Scheible, Raphael, additional, Warnatz, Klaus, additional, Atschekzei, Faranaz, additional, Beider, Renata, additional, Ernst, Diana, additional, Gerschmann, Stev, additional, Jablonka, Alexandra, additional, Mielke, Gudrun, additional, Schmidt, Reinhold E., additional, Schürmann, Gesine, additional, Sogkas, Georgios, additional, Baumann, Ulrich H., additional, Klemann, Christian, additional, Viemann, Dorothee, additional, von Bernuth, Horst, additional, Krüger, Renate, additional, Hanitsch, Leif G., additional, Scheibenbogen, Carmen M., additional, Wittke, Kirsten, additional, Albert, Michael H., additional, Eichinger, Anna, additional, Hauck, Fabian, additional, Klein, Christoph, additional, Rack-Hoch, Anita, additional, Sollinger, Franz M., additional, Avila, Anne, additional, Borte, Michael, additional, Borte, Stephan, additional, Fasshauer, Maria, additional, Hauenherm, Anja, additional, Kellner, Nils, additional, Müller, Anna H., additional, Ülzen, Anett, additional, Bader, Peter, additional, Bakhtiar, Shahrzad, additional, Lee, Jae-Yun, additional, Heß, Ursula, additional, Schubert, Ralf, additional, Wölke, Sandra, additional, Zielen, Stefan, additional, Ghosh, Sujal, additional, Laws, Hans-Juergen, additional, Neubert, Jennifer, additional, Oommen, Prasad T., additional, Hönig, Manfred, additional, Schulz, Ansgar, additional, Steinmann, Sandra, additional, Schwarz, Klaus, additional, Dückers, Gregor, additional, Lamers, Beate, additional, Langemeyer, Vanessa, additional, Niehues, Tim, additional, Shai, Sonu, additional, Graf, Dagmar, additional, Müglich, Carmen, additional, Schmalzing, Marc T., additional, Schwaneck, Eva C., additional, Tony, Hans-Peter, additional, Dirks, Johannes, additional, Haase, Gabriele, additional, Liese, Johannes G., additional, Morbach, Henner, additional, Foell, Dirk, additional, Hellige, Antje, additional, Wittkowski, Helmut, additional, Masjosthusmann, Katja, additional, Mohr, Michael, additional, Geberzahn, Linda, additional, Hedrich, Christian M., additional, Müller, Christiane, additional, Rösen-Wolff, Angela, additional, Roesler, Joachim, additional, Zimmermann, Antje, additional, Behrends, Uta, additional, Rieber, Nikolaus, additional, Schauer, Uwe, additional, Handgretinger, Rupert, additional, Holzer, Ursula, additional, Henes, Jörg, additional, Kanz, Lothar, additional, Boesecke, Christoph, additional, Rockstroh, Jürgen K., additional, Schwarze-Zander, Carolynne, additional, Wasmuth, Jan-Christian, additional, Dilloo, Dagmar, additional, Hülsmann, Brigitte, additional, Schönberger, Stefan, additional, Schreiber, Stefan, additional, Zeuner, Rainald, additional, Ankermann, Tobias, additional, Bismarck, Philipp von, additional, Huppertz, Hans-Iko, additional, Kaiser-Labusch, Petra, additional, Greil, Johann, additional, Jakoby, Donate, additional, Kulozik, Andreas E., additional, Metzler, Markus, additional, Naumann-Bartsch, Nora, additional, Sobik, Bettina, additional, Graf, Norbert, additional, Heine, Sabine, additional, Kobbe, Robin, additional, Lehmberg, Kai, additional, Müller, Ingo, additional, Herrmann, Friedrich, additional, Horneff, Gerd, additional, Klein, Ariane, additional, Peitz, Joachim, additional, Schmidt, Nadine, additional, Bielack, Stefan, additional, Groß-Wieltsch, Ute, additional, Classen, Carl F., additional, Klasen, Jessica, additional, Deutz, Peter, additional, Kamitz, Dirk, additional, Lassay, Lisa, additional, Tenbrock, Klaus, additional, Wagner, Norbert, additional, Bernbeck, Benedikt, additional, Brummel, Bastian, additional, Lara-Villacanas, Eusebia, additional, Münstermann, Esther, additional, Schneider, Dominik T., additional, Tietsch, Nadine, additional, Westkemper, Marco, additional, Weiß, Michael, additional, Kramm, Christof, additional, Kühnle, Ingrid, additional, Kullmann, Silke, additional, Girschick, Hermann, additional, Specker, Christof, additional, Vinnemeier-Laubenthal, Elisabeth, additional, Haenicke, Henriette, additional, Schulz, Claudia, additional, Schweigerer, Lothar, additional, Müller, Thomas G., additional, Stiefel, Martina, additional, Belohradsky, Bernd H., additional, Soetedjo, Veronika, additional, Kindle, Gerhard, additional, and Grimbacher, Bodo, additional

Published
2019
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