DefinitionThis section has been translated automatically.
The CTLA-4 gene is a member of the immunoglobulin superfamily and encodes a protein (CTLA-4) that transmits an inhibitory signal to T cells.
General informationThis section has been translated automatically.
The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternative transcriptional splice variants encoding different isoforms have been characterized. The membrane-bound isoform functions as a homodimer linked by a disulfide bond, whereas the soluble isoform functions as a monomer.
Polymorphisms in the CTLA-4 gene have been associated with insulin-dependent diabetes mellitus, Graves disease (Graves' disease), Hashimoto's thyroiditis, celiac disease, systemic lupus erythematosus, pemphigus vulgaris, thyroid-associated orbitopathy, and other autoimmune diseases. CTLA-4 polymorphisms may also play a pathogenetic role in vasculitic diseases such as Schönlein-Henoch purpura and various infectious diseases (e.g. leishmaniasis) (Hou HH et al. 2017).
LiteratureThis section has been translated automatically.
- Durgeau A et al.(2018) Recent Advances in Targeting CD8 T-Cell Immunity for More Effective Cancer Immunotherapy. Front Immunol 9:14.
- Gupta A et al.(2015) Systematic review: colitis associated with anti-CTLA-4 therapy. Aliment Pharmacol Ther 42:406-417.
- Hou HH et al. (2017) Association between CTLA-4 gene polymorphism and Henoch-Schönlein purpura in children. Zhongguo Dang Dai Er Ke Za Zhi 19:296-302.
- Mitsuiki N et al.(2019) What did we learn from CTLA-4 insufficiency on the human immune system? Immunol Rev 287:33-49.
