Molecular feature and therapeutic perspectives of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)

Publication date: Available online 24 January 2020Source: Journal of Genetics and GenomicsAuthor(s): Qianru Huang, Xu Liu, Yujia Zhang, Jingyao Huang, Dan Li, Bin LiAbstractRegulatory T (Treg) cells, a subtype of CD4+ T cells with distinct immunosuppressive, are vital for maintaining immune homeostasis in healthy people. FOXP3 (Forkhead box protein P3), a member of the forkhead–winged-helix family, is the pivotal transcriptional factor of Treg. The expression, post-translational modifications and protein complex of FOXP3 present a great impact on the functional stability and immune plasticity of Treg in vivo. In particular, the mutation of FOXP3 can result in immune dysregulation polyendocrinopathy enteropathy X-linked syndrome, IPEX, which is a rare genetic disease mostly diagnosed in early childhood and soon be fatal. IPEX syndrome is related to several manifestations, including dermatitis, enteropathy, type 1 diabetes, thyroiditis and so on. Here, we summarize some recent findings on FOXP3 regulation and Treg cell function. We also review the current knowledge about the underlying mechanism of FOXP3 mutant-induced IPEX syndrome and some latest clinical prospects. At last, this review offers a novel insight into the role of FOXP3 complex played in potential therapeutic applications on IPEX syndrome.
Source: Journal of Genetics and Genomics - Category: Genetics & Stem Cells Source Type: research