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 survey study
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.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81871633]; Beijing Natural Science FoundationBeijing Natural Science Foundation [7181003]; Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding [ZYLX201702]; Beijing Municipal Administration of Hospitals' Ascent Plan [DFL20180101]; Beijing Municipal Administration of Hospitals Incubating Program [PX2018003]; Beijing Municipal Administration of Hospitals Clinical Technology Innovation Project [XMLX201803]
第一作者单位：[1]Department of hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China
通讯作者：
通讯机构：[1]Department of hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China[*1]Department of hematology, Beijing Friendship Hospital, Capital Medical University, No. 95 of Yong`an Street, Xicheng District, Beijing, China.
推荐引用方式(GB/T 7714)：
Tingting Cui,Yini Wang,Jingshi Wang,et al.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 survey study[J].PEDIATRIC TRANSPLANTATION.2020,24(4):doi:10.1111/petr.13635.
APA：
Tingting Cui,Yini Wang,Jingshi Wang,Jia Zhang,Zhuo Gao&Zhao Wang.(2020).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 survey study.PEDIATRIC TRANSPLANTATION,24,(4)
MLA：
Tingting Cui,et al."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 survey study".PEDIATRIC TRANSPLANTATION 24..4(2020)
