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Article

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.

Clinical immunology (Orlando, Fla.) - 1 Feb 2016

Colobran Roger, Álvarez de la Campa Elena, Soler-Palacín Pere, Martín-Nalda Andrea, Pujol-Borrell Ricardo, de la Cruz Xavier, Martínez-Gallo Mónica

Abstract excerpt

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic autoimmune disease characterized by early-onset life-threatening multisystemic autoimmunity. This rare hereditary disorder is caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor, which plays a key role in the differentiation and function of CD4(+)CD25(+) natural...

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Source

Identifiers

PMID: 26748374
DOI: 10.1016/j.clim.2015.12.014

Genes

FOXP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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