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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2025 Kindle et al. 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.
Author(s): Kindle G, Alligon M, Albert MH, Buckland M, Edgar JD, Gathmann B, Ghosh S, Gkantaras A, Nieters A, Pignata C, Robinson PN, Rusch S, Schuetz C, Sharapova S, Shillitoe B, Candotti F, Cant AJ, Casanova J-L, Etzioni A, Fischer A, Meyts I, Notarangelo LD, Pergent M, Edvard Smith CI, Hammarstrom L, Grimbacher B, Seppanen MRJ, Mahlaoui N, Ehl S, Seidel MG
Publication type: Article
Publication status: Published
Journal: Journal of Human Immunity
Year: 2025
Volume: 1
Issue: 3
Print publication date: 01/09/2025
Online publication date: 17/07/2025
Acceptance date: 06/06/2025
Date deposited: 01/06/2026
ISSN (electronic): 3065-8993
Publisher: Rockefeller University Press
URL: https://doi.org/10.70962/jhi.20250007
DOI: 10.70962/jhi.20250007
Data Access Statement: Patient-level data are not publicly available due to privacy rights. Data underlying the figures in this manuscript may be available upon reasonable request from the corresponding author.
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