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Decoding IPEX Syndrome: From FOXP3 Mutation to Immunodysregulation

Year: 2025

Type: article

Abstract: This article reviews IPEX syndrome, a rare X-linked disorder caused by FOXP3 mutations that impair regulatory T cell development and function, leading to systemic autoimmunity. It summarizes the classic clinical triad of early-onset enteropathy, endocrinopathy (often neonatal type 1 diabetes), and dermatitis, notes the syndrome’s extreme rarity, and explains that diagnosis is confirmed by genetic testing for pathogenic FOXP3 variants. Management centers on immunosuppressive therapies to control autoimmune manifestations, with hematopoietic stem cell transplantation offering potential long-term remission for eligible patients, while rapamycin is highlighted as a promising FOXP3-independent modulator of Treg function. The piece concludes by calling for research into FOXP3 mutation heterogeneity, earlier diagnosis, expanded donor availability for HSCT, and targeted gene therapies to improve outcomes.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.17619562

Author: Victoria, Blaiotta-Vazquez, MPH

Institutions: University of Puerto Rico, Medical Sciences Campus, University of Puerto Rico System

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7105803696

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