"Effect of allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease in children: A multicentre, retrospective cohort study in China"

作者全名："Si, Yingjian; Dou, Ying; Zhai, Xiaowen; Zhou, Chen; Lu, Wei; Meng, Yan; Qian, Xiaowen; Chen, Jing; Wang, Ping; Luo, Changying; Yu, Jie; Tang, Xiangfeng"

作者地址："[Si, Yingjian; Lu, Wei; Tang, Xiangfeng] Peoples Liberat Army Gen Hosp, Dept Pediat Surg, Natl Engn Lab Birth Defects Prevent & Control Key, Beijing Key Lab Pediat Organ Failure,Seventh Med C, Beijing, Peoples R China; [Dou, Ying; Meng, Yan; Yu, Jie] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Rehabil, Childrens Hosp,Minist Educ Key Lab Child Dev & Dis, Chongqing, Peoples R China; [Zhai, Xiaowen; Qian, Xiaowen; Wang, Ping] Fudan Univ, Natl Childrens Med Ctr, Dept Hematol & Oncol, Childrens Hosp, Shanghai, Peoples R China; [Zhou, Chen; Chen, Jing; Luo, Changying] Shanghai Jiao Tong Univ, Natl Hlth Comm Key Lab Pediat Hematol & Oncol, Shanghai Childrens Med Ctr, Dept Hematol Oncol,Sch Med, Shanghai, Peoples R China; [Yu, Jie] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Cardiothorac Surg,Chongqing Key Lab Pediat, Childrens Hosp,Minist Educ Key Lab Child Dev & Dis, 136 Zhongshan Rd 2, Chongqing 400014, Peoples R China; [Tang, Xiangfeng] Peoples Liberat Army Gen Hosp, Dept Pediat Surg, Natl Engn Lab Birth Defects Prevent & Control Key, Beijing Key Lab Pediat Organ Failure,Seventh Med C, 5 Nan Mencang, Beijing 100700, Peoples R China"

通信作者："Yu, J (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Cardiothorac Surg,Chongqing Key Lab Pediat, Childrens Hosp,Minist Educ Key Lab Child Dev & Dis, 136 Zhongshan Rd 2, Chongqing 400014, Peoples R China.; Tang, XF (通讯作者)，Peoples Liberat Army Gen Hosp, Dept Pediat Surg, Natl Engn Lab Birth Defects Prevent & Control Key, Beijing Key Lab Pediat Organ Failure,Seventh Med C, 5 Nan Mencang, Beijing 100700, Peoples R China."

来源：CLINICAL IMMUNOLOGY

ESI学科分类：IMMUNOLOGY

WOS号：WOS:001176593400001

JCR分区：Q2

影响因子：4.5

年份：2024

卷号：260

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：Chronic granulomatous disease; Allogeneic hematopoietic stem cell; transplantation; GVHD; Graft failure; Infections

摘要："Chronic granulomatous disease (CGD) in children is a rare primary immunodeficiency disorder that can lead to life-threatening infections and inflammatory complications. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is increasingly being used to treat severe CGD in children. We conducted a multicenter retrospective analysis of children with CGD who were treated with allo-HSCT at four pediatric hematopoietic stem cell transplant centers in China from September 2005 to December 2019. The study included a total of 171 patients (169 males and 2 females). The median age at the time of transplantation was 6.1 (0-16.4) years. Among them, 154 patients had X-linked recessive inheritance caused by CYBB gene mutations, 12 patients were autosomal recessive, 1 patient had DNAH11 and HYDIN gene mutations, and 4 patients had no gene mutations. The median follow-up period was 36.3 (1.9-79) months. All participating patients were applied to myeloablative conditioning (MAC) regimens. The rates of OS, EFS, and GEFS within three years were 87.5%, 85.3%, and 75.2%, respectively. The total graft failure and the total mortality rate were 5.3% and 11.1%. The cumulative incidence of acute GVHD was 53.8% and the incidence of chronic GVHD was 12.9%, The incidence of chronic GVHD was higher for patients who received unrelated donor cord blood stem cell transplantation (UD-CB) (P = 0.001). Chronic GVHD and coinfections are the risk factors for OS and EFS in patients with CGD after receiving alloHSCT. UD-CB is a risk factor for EFS and the presence of pneumonia before transplantation is a risk factor for OS. In conclusion, through this study, we have demonstrated that allo-HSCT has excellent efficacy in the treatment of CGD in children, especially, RD-haplo is associated with a lower rate of graft failure incidence and mortality than the treatment modalities of other donor type. Therefore, allo-HSCT is strongly recommended when a well-matched donor is available. If a well-matched donor is not available, the HLA-mismatched donor should be carefully evaluated, and the conditioning regimen modified accordingly."

基金机构：Capital Characteristic Clinic Project [Z181100001718032]; Chongqing Medical University Future Medical Youth Innovation Team Development Support Program [W0132]

基金资助正文："The authors appreciate all of the staff of Department of Pediatrics, the Seventh Medical Center of PLA General Hospital for their assistance and all medical staff who provided medical care for CGD patients. This work was supported by funding from the Capital Characteristic Clinic Project (Z181100001718032) and the Chongqing Medical University Future Medical Youth Innovation Team Development Support Program (W0132)."