CTLA-4 基因突变与多发性硬化症：病例报告及文献复习。
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review.
机构信息
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Department of Genetics, National Taiwan University Hospital, Taipei, Taiwan.
出版信息
J Microbiol Immunol Infect. 2022 Jun;55(3):545-548. doi: 10.1016/j.jmii.2021.10.009. Epub 2021 Nov 13.
PMID:34824019
Abstract
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.
摘要
我们报告了一例自身免疫（多发性硬化症）、免疫缺陷（低丙种球蛋白血症伴严重感染）、肠病（腹泻伴肠道炎症）、脾肿大、淋巴结病和非淋巴器官（肺、肠道和大脑）的淋巴细胞浸润患者。该患者被发现存在细胞毒性 T 淋巴细胞抗原-4 杂合突变，对阿巴西普有极好的反应。
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