Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?

doi:10.3389/fimmu.2022.854749

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Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?

Frontiers in immunology - 1 Jan 2022

Gentile Micaela, Miano Maurizio, Terranova Paola, Giardino Stefano, Faraci Maura, Pierri Filomena, Drago Enrico, Verzola Daniela, Ghiggeri Gianmarco, Verrina Enrico, Angeletti Andrea, Cafferata Barbara, Grossi Alice, Ceccherini Isabella, Caridi Gianluca, Lugani Francesca, Nescis Lorenzo, Fiaccadori Enrico, Lanino Luca, Fenoglio Daniela, La Porta Edoardo

Abstract excerpt

Introduction: The Forkhead box protein P3 (FOXP3) is a transcription factor central to the function of regulatory T cells (Treg). Mutations in the FOXP3 gene lead to a systemic disease called immune dysregulation, polyendocrinopathy, and enteropathy, an X-linked syndrome (IPEX) characterized by the triad of early-onset intractable diarrhea, type 1 diabetes, and eczema. An atypical presentation of IPEX has been...

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PMID: 35479070
DOI: 10.3389/fimmu.2022.854749
PMCID: PMC9035826

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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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