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Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients
Gerhard Kindle, Mickaël Alligon, Michael H. Albert, Matthew Buckland, David Edgar, Benjamin Gathmann, Sujal Ghosh, Antonios Gkantaras, Alexandra Nieters, Claudio Pignata, Peter N. Robinson, Stephan Rusch, Catharina Schütz, Svetlana Sharapova, Benjamin Shillitoe, Fabio Candotti, Andrew J. Cant, Jean‐Laurent Casanova, A Etzioni, Alain Fischer, Isabelle Meyts, Luigi D. Notarangelo, Martine Pergent, Smith Rjh, Dalia Abd Elaziz, Hassan Abolhassani, Lalash Abrahim, Mohamed Abuzakouk, Nabila Achir Moussouni, Veronica Afonso, Alessandro Aiuti, Güzide Aksu, Meda Diana Alecsandru, Olga Aleinikova, Svetlana Aleshkevich, Zoe Allwood, Maria M. Alsina, Ariharan Ananthachagaran, Chantal Andriamanga, K. Andritschke, Tobias Ankermann, Ömür Ardeniz, Peter D. Arkwright, Susanne Aumann, V. Aumann, Tadej Avčin, Sezin Aydemir, Chiara Azzari, Perrine Bach, Peter Bader, Shahrzad Bakhtiar, Safa Barış, B. Barlan Isil, Martina Bärtsch, Ulrich Baumann, Veronika Baumeister, Suzanne de Kruijf- Bazen, Beatrice Beaurain, Julien Beauté, Brigitta Becker, Christian Becker, Rita Beier, A. Benbouzid, Vincent Benoît, Thamila Berdous-Sahed, Peter Bergman, Kai Beuckmann, Benedikt Bernbeck, Claire Bethune, Malini Bhole, K. Bienemann, Amélie Bigorgne, Marc Bijl, Nadine Binder, Michaela Bitzenhofer-Grüber, Julia J. C. Blau, Audra Blažienė, R Blume, Sebastian Bode, Claire Booth, Victoria Bordon, Melanie Börries, Michael Borte, Stephan Borte, Soraya Boucherit, Jeannette Boutros, Oksana Boyarchuk, Thomas Braschler, Robbert G. M. Bredius, Philip Bright, Sonja Brun-Schmid, Roswitha Bruns, Christina Buchta, Dietke Buck, S. Burdach, Janet Burton, Javier Carbone, Maria Carrabba, L.P. Blayney Chamberlain, Helen Chapel, Ronnie Chee, Matteo Chinello, Zita Chovancová, Martin Christmann, Krystyńa Chrzańowska, Peter Čižnár, Karlien Claes, Alison M. Condliffe, Selim Corbacioglu, Ana Isabel Cordeiro, Laurence Costes, Tanya Coulter, Virginie Courteille, M. Cucuruz, Christiane De Boeck, Mary Louise Daly, C. Daniel, Maria Giovanna Danieli, James Darroch, Nathalie de Vergnes, J. Witte, Theo Debert, Corina Defila, Judith Deimel, Rosa Maria Dellepiane, Nelli Dellert, Laura Delliera, Anita Delor, Ulrike Demel, John Dempster, Morgan Os, Sora Asfaw Desisa, Drahomíra Detková, Romina Dieli Crimi, Dagmar Dilloo, Florentia Dimitriou, Sarah S. Dinges, Johannes Dirks, Figen Dogu Esin, Michaela Döring, Gertjan J. Driessen, Yasmine Dudoit, Mate Barnabas Ecser, Olov Ekwall, Sabine M. El-Helou, Suzanne Elcombe, Roland Elling, Jane Elliott, Fügen Ersoy, Andrew Exley, Claire-Michèle Farber, Emília Faria, Anders Fasth, Gerd Fätkenheuer, Gisela Fecker, Conleth Feighery, Perez Eduardo Fernandez-Cruz, Cordeiro Ferreira Concalo, A Ferster, Tobias Feuchtinger, Oliver Feyen, Stefan Flaschberger, L. D. Fleckenstein, Dirk Föll, Concetta Forino, Urs Frey, Hannah Margarete Frick, E Friedel, Wilhelm Friedrich, Lukas Frischknecht, Stephanie Fritzemeyer, Manfred Gahr, Nicolas Garcelon, Tomaz Garcez, Birgit Garwer, Jonathan Gathmann, Linda Geberzahn, Ulf Geisen, C. Gemander, Andrew R. Gennery, Michael Gernert, Katrin Gerrer, Stev Gerschmann, Carolin Giannini, Matthias Girndt, Ramona Girrbach, Dominika Gładysz, Susanne Gnatowski, Elisabeth Gnodtke, Marie Gerisch, Sarah Goddard, Jean‐Christophe Goffard, Sigune Goldacker, Elliot Grange, Luis Ignacio González‐Granado, Pavels Gordins, Katharina L. Gössling, Lucy Gossens, Ewelina Gowin, Dagmar Graf, Norbert Graf, Johann Greil, Tatiana Souza Lopes de Guerra, Birgit Gülnur, М. Н. Гусева, David Guzman, Gabriele Haase, David Hagin, Rupert Handgretinger, Tetyana Hariyan, Thomas Harrer, Maria Hatzistilianou, Thomas Häuser, Maximilian Heeg, Michael Heike, Sabine Heine, Ulrich Heininger, Valerie Heinz, MATTHEW HELBERT, Antje Hellige, Karen Henderson, Jörg Henes, Philipp Henneke, Christian Hennig, Martin Herbst, Walter Hermann, Edyta Heropolitanska-Pliszka, Richard Herriot, Archana Herwadkar, Christoph Hess, Ursula Heß, Sebastian Hesse, Sophie Hilpert, Angela Hübner, Miriam Hoernes, Andreas Holbro, Ursula Holzer, Dirk Holzinger, Manfred Hönig, Andrea Hönscheid, Julia Horn, Gerd Horneff, Claire Hoyoux, Nataliya Hristova, Kai Hübel, Christian Huemer, Aarnoud Huissoon, B. Hülsmann, Patrick Hundsdörfer, Hans‐Iko Huppertz, Kristina Huß, Julien Husson, Tanja Hüttner-Foehlisch, Ninela Irga‐Jaworska, Marcus Jakob, Peter Jandus, M. Jaquet, B. Jauk, Katharina Jilka, Stephen Jolles, Regina Jones, H Joyce, Pricillia Juliana, Michael Kabesch, Donate Jakoby-Gaide, Christian R. Kahlert, Petra Kaiser‐Labusch, Maria Kanariou, Lothar Kanz, Elif Karakoç-Aydıner, Terese L. Katzenstein, Birgit Jonkman-Berk, Peter Kelleher, Tessa Kerre, Sara Şebnem Kılıç, Martina Kirchner, Simone Kiwit, Jessica Klasen, Maja Klaudel‐Dreszler, Christoph Klein, Andreas Klein‐Franke, Stefan Kleinert, Naschla Kohistani, Uwe Kölsch, Irina Kondratenko, Christoph Königs, Julia Konoplyannikova, Peter Kopač, J.B. Kopp, Julia Körholz, Larysa Kostyuchenko, Sven Kracker, Pavlína Králíčková, Christof M. Kramm, Máté Krausz, Johanna Krista, W. Kreuz, Renate Krüger, Wietse Kuis, Silke Kullmann, Andreas E. Kulozik, Dinakantha Kumararatne, Magdalena Kurenko – Deptuch, Necil Kütükçüler, Peter Lanbeck, Sybille Landwehr-Kenzel, Vanessa Langemeyer, Thorsten Langer, Petra Lankisch, Eusebia Lara-Villacanas, H.-J. Laws, Loïc Le Mignot, Jae‐Yun Lee, Kai Lehmberg, Simon Leutner, J rg Liebel, R. Linde, Martina Linßner, Jiří Litzman, Pilar Llobet, Tariq Lodin, J Lokaj, Susana L. Silva, Vassilios Lougaris, Annelie Lubatschofski, Mary Lucas, Johanna Liebel, Maria Elena Maccari, Anna Macura-Biegun, Paraskevi Maggina, Hannah Mahrenholz, Anne Malfroot, Wilma Mannhardt-Laakmann, Felicia Mantkowski, Nufar Marcus-Mandelblit, W. Marg, Gašper Markelj, Natalia J. Martinez, Refiloe Masekela, Katja Masjosthusmann, Tania Nicole Masmas, Pearl Mau-Asam, Nichole McIntosh, Andrea Meinhardt, Safa Meshaal, Yasmina Yahia Messaoud, Björn Meyer, Dirk Meyer-Olson, Romain Micol, Bozena Micoloc, Tomáš Milota, Siraj Misbah, Karina Mohrmann, Mostafa Moin, Luis Molinos, Sarah Möller-Nehring, Henner Morbach, Viviana Moschese, Jayashree Motwani, Nermeen Galal, Anna Mukhinа, Bozena Micoloc, Gabriele Müller, Ingo Müller, Carolin Mödden, Zoe Müller, Ulf Müller-Ladner, Sarah Müller-Stöver, Miriam Mutert, Zohreh Nademi, Paru Naik, Nora Naumann‐Bartsch, Verena Nemitz, Jennifer Neubert, Carla Neumann, Mara Niemuth, Gundula Notheis, Sanam Amelie Nowatsh, Süheyla Ocak, Peter Olbrich, Anna Olipra, Heymut Omran, Prasad T. Oommen, Małgorzata Pac, Franco Pandolfi, Theodora Papastamatiou, Alba Parra-Martínez, Olga Paschenko, Srdjan Pašić, Smita Y. Patel, Martin Pavlík, Anouk Peeters, Ruy Perez‐Becker, Hans-Hartmut Peter, Pierre Philippet, Capucine Pïcard, Leonora Pietzsch, Mònica Piquer Gibert, K. Pirolt, Helena Pommerening, Daniela Popihn, Jan Portegys, Judith Potjewijd, Sebastian Poulheim, Seraina Prader, Petra Prämassing-Scherzer, Martina Prelog, Timothy Price, Isabella Quinti, Anna Raab, Štefan Raffáč, Philippe Randrianomenjanahary, Maria Raptaki, Aleksandra Poplonek, N. Redouane, Janine Reichenbach, Dirk Reinhardt, İsmail Reisli, Nima Rezaei, Alexander Richter, Nikolaus Rieber, Nadja Rieckehr, Heidi Riescher, Johannes Rischewski, Henrike Ritterbusch, François Rivier, Christina Schäfe, Yaryna Romanyshyn, Roberto Rondelli, Johannes Roth, Abraham Rutgers, Paul Ryan, Özden Sanal Tezcan, Silvia Sánchez‐Ramón, Juan Luis Santos, Ihor Savchak, Sinisa Savic, E. Scharbatke, Ellen Schatorjé, Suzanne Schuh, P. Schmid, Nadine Schmidt, Reinhold Schmidt, Dominik T. Schneider, Reinhard Schneppenheim, Cathy Scholtes, Stefan Schönberger, Stefan Schreiber, Rik Schrijvers, Ralf Schubert, Ansgar Schulz, Ilka Schulze, Hendrik Schulze‐Koops, Ulf Schulze‐Sturm, Volker Schuster, Tobias Schwarz, Carolynne Schwarze‐Zander, Lothar Schweigerer, Wolfgang Schwinger, Jörg D. Seebach, Reinhard Seger, Florian Segerer, Barbara Selle, Suranjith L. Seneviratne, Anna Shcherbina, Arne Simon, Katja Simon-Klingenstein, Elena Sindram, Alla Skapenko, Maiken Skarke, Małgorzata Skomska-Pawliszak, Julie Smet, Ali Sobh, Georgios Sogkas, Michael Sohm, Xavier Solanich, Sabrina Spaccarotella, Guiseppe Spadaro, Monika Sparber‐Sauer, Christof Specker, Carsten Speckmann, Matthaios Speletas, Klaus-Daniel Stachel, Aurélie Stanislas, Regina Steck, Urs C. Steiner, Sandra Steinmann, W. J. Stevens, Sophie Stiehler, Hermann Stimm, Anja Sonnenschein, Matthias Stoll, Dominique Stoppa‐Lyonnet, Monika Streiter, Riet Strik‐Albers, Gaby Strotmann, Héctor Suárez Casado, Jose Luis Subiza, Mikael Sundin, Catherine Stadon, Monika Szemkus, Hannah Tamary, Sofia Tantou, Michael Tarzi, Carla Teixeira, Klaus Tenbrock, Aleksandra Uszynska, Daniel Vagedes, Moira Thomas, Fabian Thomczyk, Vojtěch Thon, Nadine Tietsch, Hans‐Peter Tony, Maria Trachana, Christel A.M.P. van Riel, Annette Uhlmann, Jan Ullrich, Simon Urschel, Julian Thalhammer, Charlotte Van Damme, Michiel van der Flier, Jaap T. van Dissel, Geoffrey van Ogtrop, Antari Vasiliki, S Velbri, Jo Vencken, Alessandro Ventura, F. Vermeulen, Christiane Vermylen, Dorothee Viemann, Anja Viereck, Anna Villa, Lisa Vinnemeier-Laubenthal, Kristina Vollbach, Horst von Bernuth, Philipp von Bismarck, Norbert Wagner, Geoffrey van Ogtrop, Matthias Wahle, V. Wahn, Nadine Wapp, Klaus Warnatz, Monika Warneke, Jean-Blaise Wasserfallen, Corrie M.R. Weemaes, Julius Wehrle, Stephan Weidinger, Jeroen Vincke, Elisabeth Weißbarth‐Riedel, Marco Westkemper, L. Wickmann, Sabine Wiegert, Ewa Więsik–Szewczyk, Uwe Wintergerst, Lukas Wisgrill, Torsten Witte, Barbara C. Wolf, Sarita Workman, Nico Wulffraat, Alişan Yıldıran, Lydia Wiesböck, Fred Zepp, Rainald Zeuner, Stefan Zielen, Wadih Abou‐Chahla, Nathalie Aladjidi, Vincent Barlogis, Sophie Bayart, Stéphane Blanche, Raphaël Borie, Patrick Boutard, Claire Briandet, Jacques Brouard, Martin Castelle, P. Cathébras, Liana Carausu, Émilie Catherinot, Nathalie Cheikh, Morgane Cheminant, Thibault Comont, Louis‐Jean Couderc, I. Durieu, Virginie Gandemer, Martine Gardembas, C. Gourguechon, Aurélien Guffroy, Corinne Guitton, Mohamed Hamidou, Yves Hatchuel, Arnaud Jaccard, Jean‐Philippe Jaïs, Serge Jacquot, Pierre-Yves Jeandel, Éric Jeziorski, Kamila Kébaïli, Olivier Lambotte, C. Larroche, Marc Lecuit, Guillaume Lefèvre, Jean‐Daniel Lelièvre, Romain Lévy, Valérie Li-Thiao-Te, Olivier Lortholary, Nicolas Martin Silva, A. Masseau, Floriane Mirgot, Luc Mouthon, Bénédicte Neven, D. Nouar, R. Nové-Josserand, Marlène Pasquet, Dominique Plantaz, Sophie Rivière, Loïc Raffray, P. Roblot, Pierre-Simon Rohrlich, Bruno Royer, V. Salle, Hélène Salvator, Jean‐Louis Stephan, N. Schleinitz, Pere Soler Palacín, Felipe Suárez, Laure Swiader, Sophie Taque, Caroline Thomas, Olivier Tournilhac, C. Thumerelle, Jean‐Pierre Vannier, Jean‐François Viallard, Mirjam Voeller, Lisa Wege, Lennart Hammarström, Bodo Grimbacher, Mikko Seppänen, Nizar Mahlaoui, Stephan Ehl, Markus G. Seidel
Bibliographic record
VenueJournal of Human Immunity · 2025
Typearticle
Languageen
FieldImmunology and Microbiology
TopicImmunodeficiency and Autoimmune Disorders
Canadian institutionsInstitute of Infection and Immunity
FundersNHLBI Division of Intramural ResearchNational Institutes of HealthNational Institute of Allergy and Infectious DiseasesUniversité de ParisDivision of Intramural Research, National Institute of Allergy and Infectious DiseasesVlaamse regeringInstitut National de la Santé et de la Recherche MédicaleInstitut des maladies génétiques ImagineFonds Wetenschappelijk Onderzoek
KeywordsMedicinePediatricsTransplantationIntensive care medicineInternal medicine
Abstract
The European Society for Immunodeficiencies patient registry (ESID-R), established in 1994, is one of the world's largest databases on inborn errors of immunity (IEI). IEI are genetic disorders predisposing patients to infections, autoimmunity, inflammation, allergies, and malignancies. Treatments include antimicrobial therapy, immunoglobulin replacement, immune modulation, stem cell transplantation, and gene therapy. Data from 194 centers in 33 countries capture clinical manifestations and treatments from birth onward, with annually expected updates. This report reviews the ESID-R's structure, data content, and impact. The registry includes 30,628 patient datasets (aged 0-97.9 years; median follow-up: 7.2 years; total 825,568.2 patient-years), with 13,550 cases in 15 sub-studies. It has produced 84 peer-reviewed publications (mean citation rate: 95). Findings include real-world observations of IEI diagnoses, genetic causes, clinical manifestations, treatments, and survival trends. The ESID-R fosters global collaboration, advancing IEI research and patient care. This report highlights the key role of the multinational ESID-R, led by an independent medical society, in evidence-based discovery.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.003
metaresearch head score (Gemma)0.010
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.013
Threshold uncertainty score0.026
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.003 | 0.010 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.009 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.020
GPT teacher head0.307
Teacher spread0.287 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations19
Published2025
Admission routes1
Has abstractyes