Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3Novel FOXP3 variant causing severe IPEX

This report outlines the clinical, genetic, and immunologic features of a novel FOXP3 missense variant causing severe, treatment-resistant IPEX in an infant, emphasizing the usefulness of quantifying TSDR-demethylated cells as an early biomarker of IPEX disease activity.

Bibliographic Details

Published in:	Journal of Human Immunity
Main Authors:	Ahmad Rayes, Akshaya Ramachandran, Michael A. Pulsipher, J. Gregory Dolan, Soohee Cho, Amanda K. Johnson, Jessie L. Alexander, Simon Borna, Rosa Bacchetta
Format:	Article
Language:	English
Published:	Rockefeller University Press 2026-03-01
Online Access:	https://rupress.org/jhi/article-pdf/doi/10.70962/jhi.20250249/2029335/jhi_20250249.pdf