Further evidence for EpCAM as the gene for congenital tufting enteropathy

Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy

“…Congenital tufting enteropathy (CTE) is a rare disease with an extraordinary clinical history 4 . Opportunistic infections occurred in patients primarily with chronic diseases or an impaired immune system 11 .…”

“…and seems to be higher in consanguineous Araborigin families 3 . Neither inflammation nor infections causes CTE 4 . The histopathology shows a crypt hyperplasia, villous atrophy, and epithelial tufts in the small intestine; the enterocytes are formed as a teardrop 5,1,2,6,7,8 .…”

“…The histopathology shows a crypt hyperplasia, villous atrophy, and epithelial tufts in the small intestine; the enterocytes are formed as a teardrop 5,1,2,6,7,8 . Recent identification of causative mutations of genes such as EpCAM and SPINT2 extend our knowledge about this disease 9,4 .…”

Tufting enteropathy with EpCAM mutation: case report

“…The level of EpCAM expression correlates with the proliferative activity of intestinal cells, and inversely correlates with their differentiation. It is frequently upregulated in colon carcinomas (7,8,9,11,13,15,17,20) . Schnell et al described that all mutations related to TE were homozygous or compound heterozygous, which is consistent with autosomal recessive inheritance.…”

Angeborene chronische Durchfälle

“…Ursache ist eine defekte Verankerung der Mikrovilli an der zum Darmlumen hin gerichteten Oberflächenmembran durch eine Mutation im Myosin-5B-Gen [16] [18]. Eine Überlappung mit der oben beschriebenen syndromalen Natriumdiarrhö wurde ebenfalls beschrieben [19].…”