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, ESID Registry Working Party, Dalia Abd Elaziz, Sohilla Lofty M. Abdelkader, Avigaelle Abitbol, Hassan Abolhassani, Lalash Abrahim, Mohamed Abuzakouk, Nabila Achir Moussouni, Nabila Achir Moussouni, Veronica Afonso, Philipp Agyeman, Martina Ahlmann, Alessandro Aiuti, Abla Akl, Güzide Aksu, Kim Albers, Meda Diana Alecsandru, Olga Aleinikova, Svetlana Aleshkevich, Radwa Salah Eldeen Youssif Alkady, Luis Allende, Zoe Allwood, Maria M. Alsina, Daniela Ambrosch-Barsoumian, Lisa Ameshofer, Kenza Amour, Evrim Anadol, Ariharan Ananthachagaran, Chantal Andriamanga, Julia Andris, K. Andritschke, Federica Angelini, Tobias Ankermann, Katrin Apel, Siamak Arami, Ömür Ardeniz, Peter D. Arkwright, Karina Arnold, Rudolf Ascherl, Najla Assam, Nurit Assia-Batzir, Faranaz Atschekzei, Susanne Aumann, V. Aumann, Magnus Aurivillius, Bernd Ausserer, Tadej Avčin, Sezin Aydemir, Emel Aygören-Pürsün, Cagdas Ayvaz Deniz, Chiara Azzari, Lo Babacar, Perrine Bach, Sophie Bachmann, Peter Bader, Shahrzad Bakhtiar, Renate Bancé, Catherine Bangs, Katerina Barfusz, Safa Barış, B. Barlan Isil, Martina Bärtsch, Lucia Augusta Baselli, Laura Batlle-Maso, Helge Baumann, Ulrich Baumann, Veronika Baumeister, Helen Baxendale, Suzanne de Kruijf- Bazen, Beatrice Beaurain, Julien Beauté, Mounia Bechar-Makhloufi, Norbert Beck, Brigitta Becker, Christian Becker, Uta Behrends
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.