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

ABSTRACT:

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

We analyzed the molecular, clinical and immune phenotype characteristics of five Chinese patients with FOXP3 mutations.

Results

We 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 pe

SUBMITTER: Huang Y 

PROVIDER: S-EPMC9448973 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature