A novel FOXP3 mutation in a Chinese child with IPEX-associated membranous nephropathy.

ABSTRACT:

Background

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic immunodeficiency disease caused by forkhead box protein3 (FOXP3) mutation. The kidney is commonly involved in IPEX syndrome, but there were few studies focusing on renal involvement.

Methods

Whole-exome sequencing was used to identify the novel FOXP3 mutation. We collected clinical manifestations, kidney pathology, and gene function of the proband. All the previously published studies with IPEX-associated renal involvement were reviewed.

Results

We report a late-onset Chinese child with IPEX-associated membranous nephropathy (MN). Type 1 diabetes mellitus and nephrotic-range proteinuria are the main clinical manifestations. Whole-exome sequencing shows a novel c.7

SUBMITTER: Tan L 

PROVIDER: S-EPMC9184667 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature