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Article

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

The Journal of clinical investigation - 1 Jun 2006

Bacchetta Rosa, Passerini Laura, Gambineri Eleonora, Dai Minyue, Allan Sarah E, Perroni Lucia, Dagna-Bricarelli Franca, Sartirana Claudia, Matthes-Martin Susanne, Lawitschka Anita, Azzari Chiara, Ziegler Steven F, Levings Megan K, Roncarolo Maria Grazia

Abstract excerpt

The autoimmune disease immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is caused by mutations in the forkhead box protein P3 (FOXP3) gene. In the mouse model of FOXP3 deficiency, the lack of CD4+ CD25+ Tregs is responsible for lethal autoimmunity, indicating that FOXP3 is required for the differentiation of this Treg subset. We show that the number and phenotype of CD4+ CD25+ T cells from...

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Share to Forkhead Transcription Factors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16741580
DOI: 10.1172/JCI25112
PMCID: PMC1472239

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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