A Review of Autoimmune Enteropathy and Its Associated Syndromes

• Published in: Digestive diseases and sciences Vol. 65; no. 11; pp. 3079 - 3090
• Main Authors: Chen, Charles B., Tahboub, Farah, Plesec, Thomas, Kay, Marsha, Radhakrishnan, Kadakkal
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-11-2020; Springer
• Subjects: Autoimmunity; Biochemistry; Care and treatment; Development and progression; Diagnosis; Diagnosis, Differential; Diarrhea; Diarrhea - immunology; Disease Progression; Early Diagnosis; Gastroenterology; Hepatology; Humans; Immune response; Infant; Infant, Newborn; Medicine; Medicine & Public Health; Mentored Review; Oncology; Polyendocrinopathies, Autoimmune - complications; Polyendocrinopathies, Autoimmune - diagnosis; Polyendocrinopathies, Autoimmune - genetics; Polyendocrinopathies, Autoimmune - immunology; Syndrome; Transplant Surgery; Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome; Autoimmune enteropathy; Autoimmune polyglandular syndrome type 1; Genetic syndromes; Immunodeficiency
• ISSN: 0163-2116; 1573-2568
• DOI: 10.1007/s10620-020-06540-8

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.