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Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China–expanding the atypical phenotypes

Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China–expanding the atypical phenotypes

Authors :
Yu Huang
Shuyu Fang
Ting Zeng
Junjie Chen
Lu Yang
Gan Sun
Rongxin Dai
Yunfei An
Xuemei Tang
Ying Dou
Xiaodong Zhao
Lina Zhou
Source :
Frontiers in Immunology, Vol 13 (2022)
Publication Year :
2022
Publisher :
Frontiers Media S.A., 2022.

Abstract

BackgroundImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder of the immune regulatory system caused by forkhead box P3 (FOXP3) mutations. Abnormal numbers or functions of regulatory T (Treg) cells account for the various autoimmune symptoms. We aimed to explore the molecular genetics and phenotypic spectra of patients with atypical IPEX syndrome in China.MethodsWe analyzed the molecular, clinical and immune phenotype characteristics of five Chinese patients with FOXP3 mutations.ResultsWe summarized the molecular and phenotypic features of five patients with FOXP3 mutations, including two novel mutations. Four of the five patients displayed atypical phenotypes, and one developed immune-related peripheral neuropathy. Three of the five patients showed normal frequencies of Treg cells, but the proportions of subsets of Treg cells, CD4+ T cells and B cells were out of balance.ConclusionsOur report broadens the understanding of the clinical features of atypical IPEX syndrome. Our detailed analyses of the immunological characteristics of these patients enhance the understanding of the possible mechanisms underlying the clinical manifestations.

Details

Language :
English
ISSN :
16643224 and 49709364
Volume :
13
Database :
Directory of Open Access Journals
Journal :
Frontiers in Immunology
Publication Type :
Academic Journal
Accession number :
edsdoj.780da2fcf4970936486762196510a
Document Type :
article
Full Text :
https://doi.org/10.3389/fimmu.2022.972746