title: The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
abstract: 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.
authors.affiliation: Department of Microbiologyand Immunology, McGill University, Montréal, Quebec, Canada.
authors.forename: Eva
authors.initials: E
authors.lastname: d'Hennezel
authors.forename: Khalid
authors.initials: K
authors.lastname: Bin Dhuban
authors.forename: Troy
authors.initials: T
authors.lastname: Torgerson
authors.forename: Ciriaco A
authors.initials: CA
authors.lastname: Piccirillo
authors.forename: Ciriaco
authors.initials: C
authors.lastname: Piccirillo
mesh_terms: D000595:Amino Acid Sequence; D051858:Forkhead Transcription Factors / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000276:immunology*; D018095:Germ-Line Mutation; D006801:Humans; D007154:Immune System Diseases / Q000235:genetics* / Q000276:immunology*; D007125:Immunogenetics; D007410:Intestinal Diseases / Q000235:genetics / Q000276:immunology; D008969:Molecular Sequence Data; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics / Q000276:immunology; D013577:Syndrome
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors