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Article

Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations.

Science translational medicine - 20 Dec 2023

Borna Šimon, Lee Esmond, Nideffer Jason, Ramachandran Akshaya, Wang Bing, Baker Jeanette, Mavers Melissa, Lakshmanan Uma, Narula Mansi, Garrett Amy Kang-Hee, Schulze Janika, Olek Sven, Marois Louis, Gernez Yael, Bhatia Monica, Chong Hey Jin, Walter Jolan, Kitcharoensakkul Maleewan, Lang Abigail, Cooper Megan A, Bertaina Alice, Roncarolo Maria Grazia, Meffre Eric, Bacchetta Rosa

Abstract excerpt

Studies of the monogenic autoimmune disease immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX) have elucidated the essential function of the transcription factor FOXP3 and thymic-derived regulatory T cells (Tregs) in controlling peripheral tolerance. However, the presence and the source of autoreactive T cells in IPEX remain undetermined. Here, we investigated how FOXP3 deficiency affects...

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Identifiers

PMID: 38117899
DOI: 10.1126/scitranslmed.adg6822
PMCID: PMC11070150

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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