Mutation of CTLA-4 causes primary immunodeficiency disease: One case report / 中国免疫学杂志
Chinese Journal of Immunology
; (12): 220-222, 2019.
Article
in Zh
| WPRIM
| ID: wpr-744637
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Type of study:
Etiology_studies
Language:
Zh
Journal:
Chinese Journal of Immunology
Year:
2019
Type:
Article