Progress of X-linked inhibitor of apoptosis deficiency in hemophagocytic lymphohistiocytosis
10.3760/cma.j.issn.1673-4408.2023.03.001
- VernacularTitle: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
- Author:
Wenqian WANG
1
;
Tianyou WANG
;
Rui ZHANG
Author Information
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
- Keywords:
Children;
Hemophagocytic lymphohistiocytosis;
X-linked inhibitor of apoptosis
- From:
International Journal of Pediatrics
2023;50(3):145-149
- CountryChina
- Language:Chinese
-
Abstract:
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-γ monoclonal antibodies, IL-18 and IL-6 antagonists may be effective, but the specific efficacy needs more study.
