congenital tufting enteropathy
congenital tufting enteropathyAn intractable watery diarrhoea of infancy (OMIM:613217), which is clinically characterised by failure to thrive and need for parenteral nutrition for normal growth and development. It pathologically manifests as villous atrophy, with absence of inflammation, and intestinal epithelial cell tufting in the duodenum and jejunum.
Defects in EPCAM, which encodes epithelial cell adhesion molecule, a relay molecule between intestinal epithelial cells and intraepithelial lymphocytes at the mucosa, cause congenital tufting enteropathy.
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