Abstract
4/2025
vol. 20
Review paper
Gastroenterological disorders in inborn errors of immunity. Part 1. Epidemiology, classification, symptoms, diagnosis, and treatment
- Department of Allergology, Clinical Immunology and Internal Diseases, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland
- Student Research Club of Clinical Immunology, Department of Allergology, Clinical Immunology and Internal Diseases, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland
Gastroenterology Rev 2025; 20 (4): 358–363
Online publish date: 2025/11/27
Inborn errors of immunity (IEI) are a heterogeneous group of genetic disorders affecting immune function, often presenting with diverse gastroenterological symptoms that pose diagnostic challenges. The latest classification developed by the International Union of Immunological Societies Experts Committee includes 582 IEI disease entities. Unfortunately, 70–80% of cases are still not recognized and do not enter the patient registers. Most cases are also diagnosed too late. This review explores the epidemiology, classification, symptoms, diagnostics, and treatment of gastrointestinal involvement in IEI.
Keywords
primary immunodeficiencies, gastrointestinal manifestations, inborn errors of immunity, gastroenterological disorders
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