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INFLAMMATORY BOWEL DISEASE DUE TO X-LINKED INHIBITOR OF APOPTOSIS DEFICIENCY
- Source :
- Annals of Allergy, Asthma & Immunology; November 2023, Vol. 131 Issue: 5, Number 5 Supplement 1 pS157-S158, 2p
- Publication Year :
- 2023
-
Abstract
- X-linked inhibitor of apoptosis deficiency (XIAP) is a rare inborn error of immunity caused by loss of function mutations in the XIAP gene. XIAP encodes an apoptosis inhibitor protein which plays a crucial role in innate and adaptive immune responses. The disease is characterized by immune dysregulation, increased risk of hemophagocytic lymphohistiocytosis, dysgammaglobulinemia, increased susceptibility to infections, inflammatory bowel disease (IBD), and autoinflammatory conditions.
Details
- Language :
- English
- ISSN :
- 10811206
- Volume :
- 131
- Issue :
- 5, Number 5 Supplement 1
- Database :
- Supplemental Index
- Journal :
- Annals of Allergy, Asthma & Immunology
- Publication Type :
- Periodical
- Accession number :
- ejs64260881
- Full Text :
- https://doi.org/10.1016/j.anai.2023.08.482