Literature DB >> 22450550

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

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

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.

Entities:  

Mesh:

Substances:

Year:  2012        PMID: 22450550     DOI: 10.1530/EJE-12-0197

Source DB:  PubMed          Journal:  Eur J Endocrinol        ISSN: 0804-4643            Impact factor:   6.664


  4 in total

1.  Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

Authors:  Markus G Seidel; Kaan Boztug; Oskar A Haas
Journal:  J Clin Immunol       Date:  2015-12-10       Impact factor: 8.317

2.  Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

Authors:  Markus G Seidel; Tatjana Hirschmugl; Laura Gamez-Diaz; Wolfgang Schwinger; Nina Serwas; Andrea Deutschmann; Gregor Gorkiewicz; Werner Zenz; Christian Windpassinger; Bodo Grimbacher; Christian Urban; Kaan Boztug
Journal:  J Allergy Clin Immunol       Date:  2014-12-22       Impact factor: 10.793

3.  High frequency of the X-chromosome inactivation in young female patients with high-grade glioma.

Authors:  Gang Li; Zhiguo Zhang; Tianbo Jin; Hongjuan Liang; Yanyang Tu; Li Gong; Zhongping Chen; Guodong Gao
Journal:  Diagn Pathol       Date:  2013-06-19       Impact factor: 2.644

Review 4.  The Emerging Role of Epigenetics in Autoimmune Thyroid Diseases.

Authors:  Bin Wang; Xiaoqing Shao; Ronghua Song; Donghua Xu; Jin-An Zhang
Journal:  Front Immunol       Date:  2017-04-07       Impact factor: 7.561

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.