Mutation of CTLA-4 causes primary immunodeficiency disease: One case report
10.3969/j.issn.1000-484X.2019.02.018
- VernacularTitle:CTLA-4基因突变致原发性免疫缺陷病1例
- Author:
Yi-Jia ZHANG
1
;
Yue-Ping JIA
;
Le-Ping ZHANG
Author Information
1. 北京大学人民医院儿科
- Keywords:
CTLA-4 mutation;
Primary immunodeficiency disease;
Autoimmune lymphoproliferative syndrome
- From:
Chinese Journal of Immunology
2019;35(2):220-222
- CountryChina
- Language:Chinese
-
Abstract:
The main biological function of cytotoxic T cell-associated protein 4 (CTLA-4) is to suppress the T cell response and suppress the immune response, and its mutation will cause a series of immune related abnormalities. This case reports a rare case of onset of lymphocytosis, immune hemolysis, repeated infection, and other similar symptoms of autoimmune lymphoproliferative syndrome which caused by CTLA4 Exon2 c. 151 C＞T mutation. Sequencing validation was performed to clarify the source of gene mutation. We review the pathogenesis of CTLA4 and new progress in treatment in this case, and the follow-up treatment for the patient was prospected.
