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autoimmune enteropathy

Wednesday 12 November 2003

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

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