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Article

IPEX as a result of mutations in FOXP3.

Clinical & developmental immunology - 1 Jan 2007

van der Vliet Hans J J, Nieuwenhuis Edward E

Abstract excerpt

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in the FOXP3 gene that result in the defective development of CD4+CD25+ regulatory T cells which constitute an important T cell subset involved in immune homeostasis and protection against autoimmunity. Their deficiency is the hallmark of IPEX and leads to severe autoimmune phenomena including...

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Identifiers

PMID: 18317533
DOI: 10.1155/2007/89017
PMCID: PMC2248278

Genes

FOXP3

Provenance

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