Delayed IPEX Syndrome with a Rare Mutation

Wen-Ting Xu; Tao Fan; Shi-Fang Zheng; Ya-Zhou Xiao

doi:10.29271/jcpsp.2025.JCPSPCR1.CR311

Author(s)

Wen-Ting Xu The First Clinical College of Hubei University of Chinese Medicine,Wuhan, Hubei,China

Tao Fan Department of Oncology and Haematology, Hubei Provincial Hospital of Integrated Traditional Chinese and Western Medicine,Wuhan, Hubei,China

Shi-Fang Zheng The First Clinical College of Hubei University of Chinese Medicine,Wuhan, Hubei,China

Ya-Zhou Xiao The First Clinical College of Hubei University of Chinese Medicine,Wuhan, Hubei,China

Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, life-threatening X-linked recessive disorder caused by FOXP3 gene mutations, with an incidence of less than one in a million. It typically presents in infancy, with half of the cases manifesting within the rst month, and is characterised by severe enteropathy, Type I diabetes, and recurrent infections. Here, the authors report a rare case of late-onset IPEX in a ve-year boy with acute disease onset, multiple organ involvement, recurrent diarrhoea, diabetes, and infections. Genetic testing identi ed a novel c. 210 + 1G >C mutation FiOnXP3 which was not previously reported. The patient underwent a successful haematopoietic stem cell transplantation (HSCT) and remained relapse-free during a one-year follow-up. This case highlights the potential for late-onset IPEX, the importance of genetic testing in atypical cases, and the e cacy of HSCT as a curative treatment. Further research is needed to explore the long-term outcomes of HSCT and the genotypephenotype correlations in IPEX syndrome.

Publication Details

Page(s) 311-313

DOI 10.29271/jcpsp.2025.JCPSPCR1.CR311

Published Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 35, Issue: 1, Year: 2025

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Keywords

diarrhoea, Haematopoietic stem cell transplantation, IPEX, Forkhead box protein 3

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