| 摘要: |
| 自身免疫淋巴增生性免疫缺陷病部分患儿病情重,预后差,严重威胁患儿生命。该病的发病机制主要分为两类:第一类为FAS 通路相关基因突变导致淋巴细胞凋亡障碍,过多未凋亡细胞在淋巴系统聚集形成淋巴增殖表现;第二类是由磷脂酰肌醇3激酶/ 蛋白激酶B/ 哺乳动物雷帕霉素靶蛋白、RAS/ 丝裂原活化蛋白激酶等信号通路过度活化造成淋巴细胞过度活化增殖,增殖的淋巴细胞聚集而引起。上述基因缺陷可导致自身免疫性淋巴细胞增生综合征、PI3K啄过度活化综合征、RAS 相关自身免疫白细胞增殖性疾病等自身免疫淋巴增生性免疫缺陷病。随着基因功能研究的不断深入,进一步揭示自身免疫淋巴增生性免疫缺陷病的发病机制,确定其中关键基因或其蛋白质产物,精准干预和治疗,对指导临床诊治与推动创新临床实践具有重要意义。 |
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| DOI：10.13407/j.cnki.jpp.1672-108X.2020.07.017 |
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| Progress of Pathogenesis and Targeted Therapy of Autoimmune Lymphoproliferative Immunodeficiency Disease |
| Zhou Peng, Zhao Xiaodong |
| (Children’ s Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing 400014, China) |
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