Objectives: To evaluate the clinical effect of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with hyper-IgM syndrome (HIGM).
Methods: A retrospective analysis was performed on the medical data of 17 children with HIGM who received allo-HSCT. The Kaplan Meier method was used for the survival analysis of the children with HIGM after allo-HSCT.
Results: After allo-HSCT, 16 children were diagnosed with sepsis; 14 tested positive for virus within 100 days after allo-HSCT, among whom 11 were positive for Epstein-Barr virus, 7 were positive for cytomegalovirus, and 2 were positive for JC virus; 9 children were found to have invasive fungal disease. There were 6 children with acute graft-versus-host disease and 3 children with chronic graft-versus-host disease. The median follow-up time was about 2 years, and 3 children died in the early stage after allo-HSCT. The children had an overall survival (OS) rate of 82.35%, an event-free survival (EFS) rate of 70.59%, and a disease-free survival (DFS) rate of 76.47%. The univariate analysis showed that the children receiving HLA-matched allo-HSCT had a significantly higher EFS rate than those receiving HLA-mismatched allo-HSCT (P=0.019) and that the children receiving HLA-matched unrelated allo-HSCT had significantly higher OS, EFS, and DFS rates than those receiving HLA-mismatched unrelated allo-HSCT (P<0.05). Compared with the children with fungal infection after allo-HSCT, the children without fungal infection had significantly higher EFS rate (P=0.02) and DFS rate (P=0.04).
Conclusions: Allo-HSCT is an effective treatment method for children with HIGM. HLA-matched allo-HSCT and active prevention and treatment of fungal infection and opportunistic infection may help to improve the prognosis of such children.
目的: 评估异基因造血干细胞移植（allogeneic hematopoietic stem cell transplantation，allo-HSCT）治疗儿童高IgM综合征（hyper-IgM syndrome，HIGM）的疗效。方法: 回顾性收集行allo-HSCT的17例HIGM患儿的临床资料并进行分析，采用Kaplan-Meier法对移植后HIGM患儿进行生存分析。结果: 移植后，16例患儿临床诊断败血症；14例患儿在移植后100 d内病毒检测阳性，包括EB病毒11例、巨细胞病毒7例、JC病毒2例等；9例患儿存在侵袭性真菌病。急/慢性移植物抗宿主病分别有6例和3例。中位随访时间约为2年，3例患儿移植后早期死亡。患儿总生存（overall survival，OS）率、无事件生存（event-free survival，EFS）率和无病生存（disease-free survival，DFS）率分别为82.35%、70.59%和76.47%。log-rank检验结果显示，全相合移植患儿的EFS率高于不全相合移植患儿（P=0.019），全相合无关供者移植患儿的OS率、EFS率和DFS率均显著优于不全相合无关供者移植患儿（P<0.05），移植后无真菌感染患儿的EFS率与DFS率优于合并真菌感染患儿（P<0.05）。结论: allo-HSCT能有效治疗HIGM。接受全相合移植并积极防治真菌及机会性感染有助于改善患儿预后。.
Keywords: Allogeneic hematopoietic stem cell transplantation; Child; Hyper-IgM syndrome; Primary immunodeficiency disease.