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Article

Clinical and molecular characteristics of immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China.

Scandinavian journal of immunology - 1 Sept 2011

An Y-F, Xu F, Wang M, Zhang Z-Y, Zhao X-D

Abstract excerpt

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked recessive disorder causing life-threatening systemic autoimmunity because of immunodysregulation. The FOXP3 gene had been reported as the responsible gene, which was critical for the functions of CD4(+) CD25(+) FOXP3(+) regulatory T cells (Tregs) and maintenance of peripheral immunologic tolerance. So far, no IPEX...

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Source

Identifiers

PMID: 21595732
DOI: 10.1111/j.1365-3083.2011.02574.x

Genes

FOXP3

Provenance

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