Article
A novel FOXP3 mutation in a Chinese child with IPEX-associated membranous nephropathy.
Molecular genetics & genomic medicine - 1 Jun 2022
Tan Liwen, An Yunfei, Yang Qin, Yang Haiping, Zhang Gaofu, Li Qiu, Wang Mo
Abstract excerpt
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...
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