X连锁凋亡抑制因子缺乏症在噬血细胞性淋巴组织细胞增生症中的研究进展  

Progress of X-linked inhibitor of apoptosis deficiency in hemophagocytic lymphohistiocytosis

作　　者：王雯倩(综述) 王天有 张蕊(审校) Wang Wenqian;Wang Tianyou;Zhang Rui(National Center for Children′s Health Beijing Children′s Hospital,Capital Medical University Hematology Oncology Center Beijing Key Laboratory of Pediatric Hematology Oncology National Key Discipline of Pediatrics Key Laboratory of Major Diseases in Children,Ministry of Education Beijing 100045,China)

机构地区：[1]国家儿童医学中心、首都医科大学附属北京儿童医院血液肿瘤中心、儿童血液病与肿瘤分子分型北京市重点实验室、儿科学国家重点学科、儿科重大疾病研究教育部重点实验室,北京100045

出　　处：《国际儿科学杂志》2023年第3期145-149,共5页International Journal of Pediatrics

基　　金：国家科技重大专项(2017ZX09304029001);北京市科技委员会首都临床特色应用研究与成果推广(Z171100001017050);首都卫生发展科研专项研究重点公关项目(2020-1-2022);北京市医院管理中心儿科学科协同发展中心专项经费资助(XTZD20180202)。

摘　　要：噬血细胞性淋巴组织细胞增生症(hemophagocytic lymphohistiocytosis,HLH)是一种全身炎症反应综合征,X连锁凋亡抑制因子(X-linked inhibitor of apoptosis,XIAP)缺乏症是一种先天免疫缺陷病,常合并HLH,对EB病毒的易感性增加,多在儿童期发病。目前认为发生HLH的机制是XIAP缺乏导致了固有免疫功能缺陷、细胞凋亡增加以及NLRP3炎症小体过度激活,共同导致了病原体的清除障碍及细胞因子的过度释放。XIAP缺乏症患者中HLH的病程一般较轻,病死率较低,但经常复发。除HLH外,该病还可同时合并一些自身炎症性疾病的表现。造血干细胞移植是唯一可以治愈的方法,减低强度的预处理效果较好。一些新型靶向药物如IFN-γ单克隆抗体、IL-18及IL-6等拮抗剂也许有效,但尚需更多的研究来证实。Hemophagocytic lymphohistiocytosis(HLH)is a systemic hyperinflammation syndrome.XIAP deficiency is an innate immunodeficiency disorder,often combined with HLH,with increased susceptibility to EB virus,mostly in childhood.XIAP deficiency leads to innate immune deficiency,increased apoptosis,and excessive activation of NLRP3 inflammasome,which together lead to impaired clearance of pathogens and excessive release of cytokines,resulting in HLH.The course of HLH in patients with XIAP deficiency is generally mild and the mortality rate is low,but it frequently relapses.In addition to HLH,XIAP deficiency can be combined with some auto-inflammatory disease.Hematopoietic stem cell transplantation is the only curable method and reduced-intensity conditioning is recommended.Some new targeted therapies,such as IFN-γmonoclonal antibodies,IL-18 and IL-6 antagonists may be effective,but the specific efficacy needs more study.

关 键 词：儿童 噬血细胞性淋巴组织细胞增生症 X连锁凋亡抑制因子 

分 类 号：R593.2[医药卫生—内科学]