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

doi:10.1530/EJE-12-0197

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

Human Genetics

Research output: Contribution to journal › Article

5 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 language	English (US)
Pages (from-to)	131-134
Number of pages	4
Journal	European Journal of Endocrinology
Volume	167
Issue number	1
DOIs	https://doi.org/10.1530/EJE-12-0197
State	Published - Jul 1 2012

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ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Endocrinology

Cite this

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

Concurrent FOXP3- And CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family. / Seidel, M. G.; Rami, B.; Item, C.; Schober, E.; Zeitlhofer, P.; Huber, W. D.; Heitger, A.; Bodamer, O. A.; Haas, O. A.

In: European Journal of Endocrinology, Vol. 167, No. 1, 01.07.2012, p. 131-134.

Research output: Contribution to journal › Article

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10.1530/EJE-12-0197