Article
Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation.
The Journal of allergy and clinical immunology - 1 Jan 2023
Narula Mansi, Lakshmanan Uma, Borna Simon, Schulze Janika J, Holmes Tyson H, Harre Nicholas, Kirkey Matthew, Ramachandran Akshaya, Tagi Veronica Maria, Barzaghi Federica, Grunebaum Eyal, Upton Julia E M, Hong-Diep Kim Vy, Wysocki Christian, Dimitriades Victoria R, Weinberg Kenneth, Weinacht Katja G, Gernez Yael, Sathi Bindu K, Schelotto Magdalena, Johnson Matthew, Olek Sven, Sachsenmaier Christoph, Roncarolo Maria-Grazia, Bacchetta Rosa
Abstract excerpt
BACKGROUND: Forkhead box protein 3 (FOXP3) is the master transcription factor in CD4+CD25hiCD127lo regulatory T (Treg) cells. Mutations in FOXP3 result in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome. Clinical presentation of IPEX syndrome is broader than initially described, challenging the understanding of the disease, its evolution, and treatment choice. OBJECTIVE: We sought...
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