title: Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.
abstract: CLTA4 is relevant for FOXP3(+)Treg cells, and the link between skewed X chromosome inactivation (XCI) and autoimmunity is recognized. The observation of immune dysregulation polyendocrinopathy enteropathy X-linked syndrome and multiorgan endocrine autoimmune phenomena in various members of one family, associated with a CTLA4 polymorphism and skewed XCI, provides an in vivo model of how mechanisms of immune dysregulation may cooperate.
authors.affiliation: St Anna Children's Hospital, Kinderspitalgasse 6, 1090 Vienna, Austria.
authors.forename: M G
authors.initials: MG
authors.lastname: Seidel
authors.forename: B
authors.initials: B
authors.lastname: Rami
authors.forename: C
authors.initials: C
authors.lastname: Item
authors.forename: E
authors.initials: E
authors.lastname: Schober
authors.forename: P
authors.initials: P
authors.lastname: Zeitlhofer
authors.forename: W D
authors.initials: WD
authors.lastname: Huber
authors.forename: A
authors.initials: A
authors.lastname: Heitger
authors.forename: O A
authors.initials: OA
authors.lastname: Bodamer
authors.forename: O A
authors.initials: OA
authors.lastname: Haas
mesh_terms: D000328:Adult; D001327:Autoimmune Diseases / Q000235:genetics*; D060908:CTLA-4 Antigen / Q000235:genetics*; D051858:Forkhead Transcription Factors / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D049951:X Chromosome Inactivation / Q000235:genetics*
chemical_list: D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors