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

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 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

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Endocrinology

Access to Document

10.1530/EJE-12-0197

Fingerprint Dive into the research topics of 'Concurrent FOXP3- And CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family'. Together they form a unique fingerprint.

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

@article{1dda4a4228eb48caabe1f350fab1d394,

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.",

author = "Seidel, {M. G.} and B. Rami and C. Item and E. Schober and P. Zeitlhofer and Huber, {W. D.} and A. Heitger and Bodamer, {O. A.} and Haas, {O. A.}",

year = "2012",

month = jul,

day = "1",

doi = "10.1530/EJE-12-0197",

language = "English (US)",

volume = "167",

pages = "131--134",

journal = "European Journal of Endocrinology",

issn = "0804-4643",

publisher = "BioScientifica Ltd.",

number = "1",

}

TY - JOUR

T1 - Concurrent FOXP3- And CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family

AU - Seidel, M. G.

AU - Rami, B.

AU - Item, C.

AU - Schober, E.

AU - Zeitlhofer, P.

AU - Huber, W. D.

AU - Heitger, A.

AU - Bodamer, O. A.

AU - Haas, O. A.

PY - 2012/7/1

Y1 - 2012/7/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84862732229&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84862732229&partnerID=8YFLogxK

U2 - 10.1530/EJE-12-0197

DO - 10.1530/EJE-12-0197

M3 - Article

C2 - 22450550

AN - SCOPUS:84862732229

VL - 167

SP - 131

EP - 134

JO - European Journal of Endocrinology

JF - European Journal of Endocrinology

SN - 0804-4643

IS - 1

ER -