Article
IPEX and FOXP3: clinical and research perspectives.
Journal of autoimmunity - 1 Jan 2005
Wildin Robert S, Freitas Antonio
Abstract excerpt
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare inborn error of immune regulation characterized by the early onset of one or more autoimmune diseases in boys. IPEX is caused by mutations in FOXP3, and is thus the homologue of the scurfy mutant mouse. The gene product, Scurfin, is required for the development of CD4+CD25+ T regulatory cells. In the absence of T regulatory...
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