Autoimmune Enteropathy (AE) panel [18 genes]

Autoimmune enteropathy is a rare autoimmune disorder with early onset, characterized by the presence of circulating autoantibodies directed against gut epithelial cells. A dysfunction of regulatory T cells may lead to autoantibody production, which causes noncoeliac enteropathy (NCE) with villous atrophy. This results in intestinal wall damage. Genetic testing offers differential diagnosis for other overlapping syndromes like congenital diarrhoea and provides alternative options for specific treatments.

Clinical features

  • Diarrhoea with malabsorption and anorexia
  • Non-celiac enteropathy villous atrophy
  • Auto-Ab against enterocytes and goblet cells
  • Lymphocytic infiltration in the cryptic epithelium
  • Onset: childhood

Prevalence

  • ~1:100,000

Service benefits and management

  • Hematopoietic stem cell transplantation (HSCT)
  • Immunosupressive agents (cyclosporin)
  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation

CIITA, CTLA4, CD55, DGAT1, EPCAM, FOXP3, GUCY2C, IL10, MYO5B, NEUROG3, NFAT5, NLRC4, SKIV2L, SLC26A3, SLC9A3, SPINT2, STAT1, TTC37

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