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Digestive Diseases and Sciences
Published in: Digestive Diseases and Sciences 11/2020

01-11-2020 | Immunodeficiency | MENTORED REVIEW

A Review of Autoimmune Enteropathy and Its Associated Syndromes

Authors: Charles B. Chen, Farah Tahboub, Thomas Plesec, Marsha Kay, Kadakkal Radhakrishnan

Published in: Digestive Diseases and Sciences | Issue 11/2020

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Abstract

Autoimmune enteropathy is an extremely rare condition characterized by an abnormal intestinal immune response which typically manifests within the first 6 months of life as severe, intractable diarrhea that does not respond to dietary modification. Affected individuals frequently present with other signs of autoimmunity. The diagnosis is made based on a characteristic combination of clinical symptoms, laboratory studies, and histological features on small bowel biopsy. Autoimmune enteropathy is associated with a number of other conditions and syndromes, most notably immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome and autoimmune polyglandular syndrome type 1 (APS-1). Diagnosis and treatment is challenging, and further research is needed to better understand the pathogenesis, disease progression, and long-term outcomes of these conditions.
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Metadata
Title
A Review of Autoimmune Enteropathy and Its Associated Syndromes
Authors
Charles B. Chen
Farah Tahboub
Thomas Plesec
Marsha Kay
Kadakkal Radhakrishnan
Publication date
01-11-2020
Publisher
Springer US
Published in
Digestive Diseases and Sciences / Issue 11/2020
Print ISSN: 0163-2116
Electronic ISSN: 1573-2568
DOI
https://doi.org/10.1007/s10620-020-06540-8

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