Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.

doi:10.1016/j.cgh.2005.12.014

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Article

Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association - 1 May 2006

De Benedetti Fabrizio, Insalaco Antonella, Diamanti Antonella, Cortis Elisabetta, Muratori Flaminia, Lamioni Andrea, Carsetti Rita, Cusano Roberto, De Vito Rita, Perroni Lucia, Gambarara Manuela, Castro Massimo, Bottazzo Gian Franco, Ugazio Alberto G

Abstract excerpt

BACKGROUND & AIMS: The syndrome of immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is a rare disorder resulting in the expression of multiple autoimmune and allergic features. Early onset enteropathy and type 1 diabetes (T1D) are the most common clinical features. The IPEX syndrome is caused by mutations of the FOXP3 gene, which is essential for the development of regulatory T cells (Treg)....

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PMID: 16630773
DOI: 10.1016/j.cgh.2005.12.014

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FOXP3

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