FOXP3

About FOXP3

FOXP3 on chromosome Xp11.23 encodes a forkhead family transcription factor that is the master regulator of regulatory T cells, a subset of T cells that suppress immune responses and maintain tolerance to the tissues of the body. Loss of function variants cause IPEX syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X linked, a rare and severe autoimmune disorder affecting boys that typically begins in infancy with intractable diarrhea, early onset type 1 diabetes, eczema, and other autoimmune problems. A naturally occurring mutation in the mouse Foxp3 gene underlies the scurfy mouse, a model that helped establish its role. Research on regulatory T cells and FOXP3 by Shimon Sakaguchi and others was central to the understanding of peripheral immune tolerance. Hematopoietic stem cell transplantation is the main established treatment for IPEX.