Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Seidel, MG; Rami, B; Item, C; Schober, E; Zeitlhofer, P; Huber, WD; Heitger, A; Bodamer, OA; Haas, OA.
Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.
Eur J Endocrinol. 2012; 167(1):131-134
Doi: 10.1530/EJE-12-0197
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
- Leading authors Med Uni Graz
- Seidel Markus
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- 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