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

作者全名："Huang, Yu; Fang, Shuyu; Zeng, Ting; Chen, Junjie; Yang, Lu; Sun, Gan; Dai, Rongxin; An, Yunfei; Tang, Xuemei; Dou, Ying; Zhao, Xiaodong; Zhou, Lina"

作者地址："[Huang, Yu; Fang, Shuyu; Zeng, Ting; Chen, Junjie; Yang, Lu; Sun, Gan; Dai, Rongxin; An, Yunfei; Tang, Xuemei; Dou, Ying; Zhao, Xiaodong; Zhou, Lina] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Key Lab Child Dev & Disorders, Chongqing Key Lab Child Infect & Immun,Minist Educ, Chongqing, Peoples R China; [Huang, Yu; Dou, Ying] Chongqing Med Univ, Childrens Hosp, Dept Hematol Oncol, Chongqing, Peoples R China; [Dai, Rongxin; An, Yunfei; Tang, Xuemei] Chongqing Med Univ, Childrens Hosp, Dept Rheumatism & Immunol, Chongqing, Peoples R China"

通信作者："Zhao, XD; Zhou, LA (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Key Lab Child Dev & Disorders, Chongqing Key Lab Child Infect & Immun,Minist Educ, Chongqing, Peoples R China."

来源：FRONTIERS IN IMMUNOLOGY

ESI学科分类：IMMUNOLOGY

WOS号：WOS:000850726900001

JCR分区：Q1

影响因子：7.3

年份：2022

卷号：13

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：IPEX syndrome; primary immunodeficiency disease; FOXP3 mutations; regulatory T cells; atypical phenotypes

摘要："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."

基金机构：General Basic Research Project from the Ministry of Education Key Laboratory of Child Development and Disorders; [GBRP-202119]

基金资助正文：Funding This work was supported by the General Basic Research Project from the Ministry of Education Key Laboratory of Child Development and Disorders (No. GBRP-202119).