AUTHOR=Ke Ruijuan , Zhu Ying , Deng Fang , Xu Daliang 

TITLE=Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report

JOURNAL=Frontiers in Genetics

VOLUME=Volume 12 - 2021

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.752775

DOI=10.3389/fgene.2021.752775

ISSN=1664-8021

ABSTRACT=The immune dysregulation polyendocrinopathy enteropathy, X-linked syndrome (IPEX) is a rare genetic disease characterized by multiple immune disorders. The different mutations of FOXP3 gene may lead to different manifestations. Here we present a rare case of IPEX syndrome with a novel variant in FOXP3 gene. Clinical manifestations include autoimmune hemolysis, bronchiectasis, diarrhea, and proteinuria but not diabetes and other endocrine disorders. Whole-exon sequencing confirmed the diagnosis of IPEX syndrome. Supportive treatment did not ameliorate his symptoms and immunosuppressive therapy showed a promising efficacy. Our report would provide a reference for the diagnosis and treatment of IPEX syndrome.