The role of allogeneic hematopoietic stem cell transplantation and Epstein-Barr virus infection on the treatment for child primary hemophagocytic lymphohistiocytosis patients with X-linked lymphoproliferative disease: A rare case report and family su
The role of allogeneic hematopoietic stem cell transplantation and Epstein-Barr virus infection on the treatment for child primary hemophagocytic lymphohistiocytosis patients with X-linked lymphoproliferative disease: A rare case report and family su
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异基因造血干细胞移植联合Epstein-Barr病毒感染治疗儿童原发性噬血细胞性淋巴组织细胞增多症伴X连锁淋巴组织增生性疾病一例罕见病例及家系报告
DOI：
10.1111/petr.13635
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发表时间：
2020
影响因子：
1.3
通讯作者：
Wang Zhao
中科院分区：
文献类型：
--
作者：
Cui Tingting;Wang Yini;Wang Jingshi;Zhang Jia;Gao Zhuo;Wang Zhao
XLP-2是一种罕见的原发免疫缺陷性疾病，其特点是易受EBV感染，并有可能发展为PHLH。现有研究认为XIAP功能障碍是XLP-2最重要的致病机制之一，allo-HSCT被认为是XLP-2患者长期生存的关键治疗手段。在我们目前的研究中，一名2岁的男性患者被诊断为XLP-2。在没有接受allo-HSCT的情况下接受HLH-2004化疗后，他达到了完全缓解，他的EBV载量得到了控制。我们的家庭调查显示，在该患者以及他的表亲和祖父中，XIAP基因发生了一种新的移码突变。到目前为止，患者已经被随访了22个月，没有复发的报告。根据这些发现，我们认为对于携带XLP-2的儿童PHLH患者，仅通过控制症状而不进行allo-HSCT和定期监测EBV载量的治疗可能有助于长期生存。
XLP-2 is known as a rare primary immunodeficiency disease, which is characterized by the susceptibility to EBV infection and potential development into the pHLH. The existing studies believe that the dysfunction of XIAP represents one of the most significant pathogenic mechanisms of XLP-2, and allo-HSCT is regarded as a crucial treatment for the long-term survival in XLP-2 patients. In our present study, a 2-year-old male patient was diagnosed with XLP-2. After receiving chemotherapy by using HLH-2004 without allo-HSCT, he reached a complete remission, and his EBV load was brought under control. Our family survey revealed a novel frameshift mutation in the XIAP gene in this patient, as well as in his cousin and grandfather. Until now, the patient has been followed up for 22 months with no recurrence reported yet. Based on these findings, it is believed that for child pHLH patients with XLP-2, the treatment by controlling symptoms alone without allo-HSCT and with regular monitoring of EBV load could be conducive to a long-term survival.