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Article

Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction.

Cell reports - 29 Aug 2023

Leon Juliette, Chowdhary Kaitavjeet, Zhang Wenxiang, Ramirez Ricardo N, André Isabelle, Hur Sun, Mathis Diane, Benoist Christophe

Abstract excerpt

Mutations of the transcription factor FoxP3 in patients with "IPEX" (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome) disrupt regulatory T cells (Treg), causing an array of multiorgan autoimmunity. To understand the functional impact of mutations across FoxP3 domains, without genetic and environmental confounders, six human FOXP3 missense mutations are engineered into mice. Two classes of...

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Identifiers

PMID: 37605532
DOI: 10.1016/j.celrep.2023.113018
PMCID: PMC10565790

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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