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.

journal_name

Eur J Endocrinol

authors

Seidel MG,Rami B,Item C,Schober E,Zeitlhofer P,Huber WD,Heitger A,Bodamer OA,Haas OA

doi

10.1530/EJE-12-0197

subject

Has Abstract

pub_date

2012-07-01 00:00:00

pages

131-4

issue

1

eissn

0804-4643

issn

1479-683X

pii

EJE-12-0197

journal_volume

167

pub_type

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