Synopsis
intractable diarrhea
intestinal villous atrophy
enteritis with intestinal chorionic chronic inflammation (inflammatory infiltrate of the lamina propria)
+/- intestinal cryptic hyperplasia
colitis (pancolitis)
gastritis
circulating anti-enterocyte antibodies (AEA)
other auto-antibodies (anti-smooth muscle, anti-endoplasmic reticulum, anti-mitochondrial, anti-parietal cell, anti-adrenal, anti-DNA, anti-ANA)
Associations
auto-immunity
- type I diabetes mellitus
- Coombs-positive auroimune hemolytic anemia
- neutropenia
- thrombocytopenia
- membranous glomerulonephritis
- interstitial nephritis
- dermatis herpetiformis
- hypothyroidy
- acute hepatitis
- chronic hepatitis
- diffuse interstitial pneumonitis
- bullous pemphigoid
- congenital alopecia
- systemic vasculitis (after immunosuppressive therapy) (7726616)
- chronic autoimmune hepatitis
juvenile rheumatoid arthritis
lymphoma and bone marrow transplantation
Variant
familial autoimmune enteropathy (7996356)
Types
IPEX type of autoimmune enteropathy (IPEX syndrome by FOXP3 mutations)
non-IPEX type of autoimmune enteropathy
- non-IPEX form of autoimmune enteropathy combined with an immunodeficiency (17484867)
Reviews
Ruemmele FM, Brousse N, Goulet O. Autoimmune enteropathy: molecular concepts. Curr Opin Gastroenterol. 2004 Nov;20(6):587-91. PMID: 15703687
Russo PA, Brochu P, Seidman EG, Roy CC. Autoimmune enteropathy. Pediatr Dev Pathol. 1999 Jan-Feb;2(1):65-71. PMID: 9841709
Jenkins HR, Jewkes F, Vujanic GM. Systemic vasculitis complicating infantile autoimmune enteropathy. Arch Dis Child. 1994 Dec;71(6):534-5. PMID: 7726616
References
Zuber J, Viguier M, Lemaitre F, Senée V, Patey N, Elain G, Geissmann F, Fakhouri F, Ferradini L, Julier C, Bandeira A. Severe FOXP3+ and naïve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency. Gastroenterology. 2007 May;132(5):1694-704. PMID: 17484867