| Literature DB >> 22450550 |
M G Seidel1, B Rami, C Item, E Schober, P Zeitlhofer, W D Huber, A Heitger, O A Bodamer, O A Haas.
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.Entities:
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Year: 2012 PMID: 22450550 DOI: 10.1530/EJE-12-0197
Source DB: PubMed Journal: Eur J Endocrinol ISSN: 0804-4643 Impact factor: 6.664