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

Eur J Endocrinol. 2012 Jul;167(1):131-4. doi: 10.1530/EJE-12-0197. Epub 2012 Mar 26.

Authors

M G Seidel¹, B Rami, C Item, E Schober, P Zeitlhofer, W D Huber, A Heitger, O A Bodamer, O A Haas

Affiliation

¹ St Anna Children's Hospital, Kinderspitalgasse 6, 1090 Vienna, Austria.

PMID: 22450550
DOI: 10.1530/EJE-12-0197

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.

Publication types

Case Reports

MeSH terms

Adult
Autoimmune Diseases / genetics*
CTLA-4 Antigen / genetics*
Forkhead Transcription Factors / genetics*
Genetic Diseases, X-Linked / genetics
Genetic Predisposition to Disease*
Humans
Male
Mutation
Pedigree
X Chromosome Inactivation / genetics*

Substances

CTLA-4 Antigen
CTLA4 protein, human
FOXP3 protein, human
Forkhead Transcription Factors