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

M. G. Seidel, B. Rami, C. Item, E. Schober, P. Zeitlhofer, W. D. Huber, A. Heitger, O. A. Bodamer, O. A. Haas

Research output: Contribution to journalArticle

6 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)131-134
Number of pages4
JournalEuropean Journal of Endocrinology
Volume167
Issue number1
DOIs
StatePublished - Jul 1 2012

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    Seidel, M. G., Rami, B., Item, C., Schober, E., Zeitlhofer, P., Huber, W. D., Heitger, A., Bodamer, O. A., & Haas, O. A. (2012). Concurrent FOXP3- And CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family. European Journal of Endocrinology, 167(1), 131-134. https://doi.org/10.1530/EJE-12-0197