Article
Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China-expanding the atypical phenotypes.
Frontiers in immunology - 1 Jan 2022
Huang Yu, Fang Shuyu, Zeng Ting, Chen Junjie, Yang Lu, Sun Gan, Dai Rongxin, An Yunfei, Tang Xuemei, Dou Ying, Zhao Xiaodong, Zhou Lina
Abstract excerpt
Background: Immune 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. Methods:...
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