Epstein-Barr virus infection plays a crucial role in triggering hemophagocytic lymphohistiocytosis in patients with X-linked inhibitor of apoptosis protein deficiency.
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引用次数: 0
Abstract
Background: X-linked inhibitor of apoptosis protein (XIAP) deficiency is a congenital immunodeficiency disorder characterized by increased susceptibility to Epstein-Barr virus (EBV) infection and is frequently associated with hemophagocytic lymphohistiocytosis (HLH).
Objective: To investigate the correlation between EBV and XIAP deficiency-related HLH, including EBV infection status, XIAP genetic mutation sites, and the efficacy of different treatment regimens in patients with EBV-positive XIAP deficiency-related HLH, and to analyse the prognosis of these patients.
Methods: We retrospectively analysed patients diagnosed with EBV-positive XIAP deficiency-related HLH.
Results: Data were collected from August 2017 to August 2024, and 10 patients were included in this study. All patients exhibited an elevated EBV-DNA load. EBV-DNA was detected in both plasma (2/10) and peripheral blood mononuclear cells (10/10), specifically B cells (9/9) and T cells (4/9). Treatment regimens containing rituximab, HLH-2004, and dexamethasone with or without ruxolitinib achieved complete remission. However, only the regimen containing rituximab successfully eradicated EBV from plasma and peripheral blood mononuclear cells in all patients. None of the patients underwent allogeneic haematopoietic stem cell transplantation. No cases of HLH recurrence or EBV reactivation were observed during a median follow-up of 28 months.
Conclusions: EBV infection plays a crucial role in triggering HLH in patients with XIAP deficiency. XIAP deficiency-related HLH is frequently associated with EBV infection, which predominantly affects B cells. Treatment regimens containing rituximab can effectively control HLH and eliminate EBV infection. Allogeneic haematopoietic stem cell transplantation may be avoidable in paediatric patients achieving EBV eradication through rituximab-containing regimens.
Epstein-Barr病毒感染在X-linked inhibitor of apoptosis protein缺乏症患者的噬血细胞性淋巴组织细胞增多症中起着至关重要的作用。
背景：X-linked inhibitor of apoptosis protein （XIAP）缺乏症是一种先天性免疫缺陷疾病，其特征是对eb病毒（EBV）感染的易感性增加，并且经常与噬血细胞性淋巴组织细胞增多症（HLH）相关。目的：探讨EBV与XIAP缺陷相关HLH的相关性，包括EBV感染状态、XIAP基因突变位点以及EBV阳性XIAP缺陷相关HLH患者不同治疗方案的疗效，并分析这些患者的预后。方法：我们回顾性分析被诊断为ebv阳性XIAP缺陷相关HLH的患者。结果：数据采集时间为2017年8月至2024年8月，共纳入10例患者。所有患者都表现出EBV-DNA载量升高。血浆（2/10）和外周血单个核细胞（10/10）均检测到EBV-DNA，特别是B细胞（9/9）和T细胞（4/9）。治疗方案包括利妥昔单抗、hhl -2004和地塞米松加或不加鲁索利替尼达到完全缓解。然而，在所有患者中，只有含有利妥昔单抗的方案成功地从血浆和外周血单个核细胞中根除EBV。所有患者均未接受同种异体造血干细胞移植。在28个月的中位随访期间，没有观察到HLH复发或EBV再激活的病例。结论：EBV感染在XIAP缺乏症患者触发HLH中起关键作用。XIAP缺陷相关的HLH通常与EBV感染相关，EBV感染主要影响B细胞。含有利妥昔单抗的治疗方案可有效控制HLH，消除EBV感染。通过含有利妥昔单抗的方案实现EBV根除的儿科患者可以避免同种异体造血干细胞移植。
期刊介绍：
Hematology is an international journal publishing original and review articles in the field of general hematology, including oncology, pathology, biology, clinical research and epidemiology. Of the fixed sections, annotations are accepted on any general or scientific field: technical annotations covering current laboratory practice in general hematology, blood transfusion and clinical trials, and current clinical practice reviews the consensus driven areas of care and management.
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