Gastroenterology Review
eISSN: 1897-4317
ISSN: 1895-5770
Gastroenterology Review/Przegląd Gastroenterologiczny
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abstract:
Review paper

Gastroenterological disorders in inborn errors of immunity. Part 1. Epidemiology, classification, symptoms, diagnosis, and treatment

Katarzyna Napiórkowska-Baran
1
,
Paweł Treichel
2
,
Kinga Koperska
2
,
Oliwia Kudrej
2
,
Natalia Mućka
2
,
Alicja Rajewska
2
,
Adam Wawrzeńczyk
1
,
Zbigniew Bartuzi
1

  1. Department of Allergology, Clinical Immunology and Internal Diseases, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland
  2. 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
DOI: https://doi.org/10.5114/pg.2025.156470
Online publish date: 2025/11/27
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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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