Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family

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,...

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Veröffentlicht in:	European journal of endocrinology 2012-07, Vol.167 (1), p.131-134
Hauptverfasser:	Seidel, M G, Rami, B, Item, C, Schober, E, Zeitlhofer, P, Huber, W D, Heitger, A, Bodamer, O A, Haas, O A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Autoimmune Diseases - genetics Biological and medical sciences Case Report CTLA-4 Antigen - genetics Endocrinopathies Forkhead Transcription Factors - genetics Fundamental and applied biological sciences. Psychology Genetic Diseases, X-Linked - genetics Genetic Predisposition to Disease Humans Male Medical sciences Mutation Pedigree Vertebrates: endocrinology X Chromosome Inactivation - genetics
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Beschreibung
Zusammenfassung:	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.
ISSN:	0804-4643 1479-683X
DOI:	10.1530/EJE-12-0197