Document Type
Article
Publication Date
9-1-2025
Original Citation
Kindle G,
Alligon M,
Albert M,
Buckland M,
Edgar J,
Gathmann B,
Ghosh S,
Gkantaras A,
Nieters A,
Pignata C,
Robinson P,
Rusch S,
Schuetz C,
Sharapova S,
Shillitoe B,
Candotti F,
Cant A,
Casanova J,
Etzioni A,
Fischer A,
Meyts I,
Notarangelo L,
Pergent M,
Smith C,
,
Hammarström L,
Grimbacher B,
Seppänen M,
Mahlaoui N,
Ehl S,
Seidel M.
Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patients. J Hum Immun. 2025;1(3)
Keywords
JGM
JAX Source
J Hum Immun. 2025;1(3)
ISSN
3065-8993
PMID
41347188
DOI
https://doi.org/10.70962/jhi.20250007
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.
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