Mutation of CTLA-4 causes primary immunodeficiency disease: One case report / 中国免疫学杂志

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.