Inborn errors of immunity: manifestation, treatment, and outcome – an ESID registry 1994-2024 report on 30,628 patients
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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 highlight real-world observations of IEI diagnoses, genetic causes, treatments, and survival trends. The ESID-R fosters global collaboration, advancing IEI research and patient care. Early declining survival probabilities for many IEI subcategories suggest expanding newborn screening beyond severe combined immune deficiencies. This report highlights the key role of the multi-national ESID-R, led by an independent medical society, in evidence-based discovery.
Summary
Worldwide, most patient registries for inborn errors of immunity are national, with limited geographical and temporal scope. This 30-year ESID registry analysis of 30,628 patients’ longitudinal datasets enables robust epidemiological studies on natural disease courses including diagnosis, treatment, and survival, supporting expanded newborn screening and future AI applications in IEI research.
