TY - JOUR T1 - The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome JF - Journal of Medical Genetics JO - J Med Genet SP - 291 LP - 302 DO - 10.1136/jmedgenet-2012-100759 VL - 49 IS - 5 AU - Eva d'Hennezel AU - Khalid Bin Dhuban AU - Troy Torgerson AU - Ciriaco Piccirillo Y1 - 2012/05/01 UR - http://jmg.bmj.com/content/49/5/291.abstract N2 - Immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome is a rare disorder in humans caused by germ-line mutations in the FOXP3 gene, a master transcriptional regulator for the development of CD4 regulatory T (Treg) cells. This T cell subset has global inhibitory functions that maintain immune homeostasis and mediate self-tolerance. Treg developmental deficiency or dysfunction is a hallmark of IPEX. It leads to severe, multi-organ, autoimmune phenomena including enteropathy, chronic dermatitis, endocrinopathy and other organ-specific diseases such as anaemia, thrombocytopenia, hepatitis and nephritis. In this review, the genetic, immunological and clinical characteristics of IPEX syndrome are described, and the impact of heritable mutations on the function of Treg cells highlighted. ER -