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Article

[Girl with IPEX syndrome with low expression of Foxp3].

Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology - 1 Jan 2012

Horiuchi Sayaka, Ishiguro Akira, Nakagawa Tomoko, Shoji Kensuke, Nagai Akira, Arai Katsuhiro, Horikawa Reiko, Kawai Toshinao, Watanabe Nobuyuki, Onodera Masafumi

Abstract excerpt

IPEX (immune dysregulation, polyendocrinopathy, enteropathy, and X-linked) syndrome is a rare immune disorder characterized by endocrinopathy such as insulin-dependent diabetes and hypothyroidism, intractable diarrhea, and recurrent infections. The mutation of the gene encoding a transcription factor, forkhead box P3 (FOXP3), leads to the dysfunction of regulatory T cells, resulting in systemic autoimmunity. IPEX...

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Source

Identifiers

PMID: 23291488
DOI: 10.2177/jsci.35.526

Genes

FOXP3

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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[Girl with IPEX syndrome with low expression of Foxp3].PMID 23291488Read ↗

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From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.Semantic proximity Read ↗

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.Semantic proximity Read ↗

Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.Semantic proximity Read ↗

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IPEX as a result of mutations in FOXP3.Semantic proximity Read ↗

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