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.
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