Article
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review.
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi - 1 Jun 2022
Lin Ting-Wei, Hu Ya-Chiao, Yang Yao-Hsu, Chien Yin-Hsiu, Lee Ni-Chung, Yu Hsin-Hui, Chiang Bor-Luen, Wang Li-Chieh
Abstract excerpt
We reported a patient with autoimmunity (multiple sclerosis), immunodeficiency (hypogammaglobulinemia with severe infections), enteropathy (diarrhea with intestinal inflammation), splenomegaly, lymphadenopathy and lymphocytic infiltration of non-lymphoid organs (lung, gut and brain). The patient was found to have a heterozygous mutation in cytotoxic T lymphocyte antigen-4, and had excellent response to abatacept.
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