IPEX as a Consequence of Alternatively Spliced FOXP3.

ABSTRACT: The transcription factor FOXP3 controls the immunosuppressive program in CD4⁺ T cells that is crucial for systemic immune regulation. Mutations of the single X-chromosomal FOXP3 gene in male individuals cause the inherited autoimmune disease immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome. Insufficient gene expression and impaired function of mutant FOXP3 protein prevent the generation of anti-inflammatory regulatory T (Treg) cells and fail to inhibit autoreactive T cell responses. Diversification of FOXP3 functional properties is achieved through alternative splicing that leads to isoforms lacking exon 2 (FOXP3Δ2), exon 7 (FOXP3Δ7), or both (FOXP3Δ2Δ7) specifically in human CD4⁺ T cells. Several IPEX mutations targeting thes

SUBMITTER: Mailer RK 

PROVIDER: S-EPMC7609600 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature