目的 探讨含塞替派（thiotepa, TT）预处理方案行异基因造血干细胞移植（hematopoietic stem cell transplantation, HSCT）治疗儿童免疫出生缺陷（inborn errors of immunity, IEI）的安全性及临床疗效。 方法 回顾性分析22例接受HSCT的IEI患儿的临床资料，采用Kaplan-Meier法对移植后IEI患儿进行生存分析。 结果 9例采用传统预处理方案（氟达拉滨+白消安+环磷酰胺/依托泊苷），均为外周HSCT；13例采用含TT改良预处理方案（TT+氟达拉滨+白消安+环磷酰胺），其中7例为外周HSCT，6例为脐血HSCT。所有患儿均成功植入，实现供体完全嵌合。12例发生急性移植物抗宿主病（graft versus host disease, GVHD），1例为Ⅲ度急性GVHD，其余为Ⅰ~Ⅱ度急性GVHD。慢性GVHD 1例。脐血HSCT患儿较外周HSCT患儿EB病毒血症发生率低（P<0.05）。中位随访36.0个月，死亡1例。改良预处理方案、传统预处理方案患儿3年总生存（overall survival, OS）率分别为100%、（88.9±10.5）%，二者差异无统计学意义（P=0.229）。脐血HSCT、外周HSCT患儿3年OS率分别为100%、（93.8±6.1）%，无事件生存率分别为100%、（87.1±8.6）%，差异均无统计学意义（P>0.05）。 结论 含TT的预处理方案安全性好，疗效确切。脐血HSCT或外周HSCT治疗儿童IEI均有较高的成功率。

Objective To evaluate the safety and efficacy of thiotepa (TT)-containing conditioning regimens for allogeneic hematopoietic stem cell transplantation (HSCT) in children with inborn errors of immunity (IEI). Methods Clinical data of 22 children with IEI who underwent HSCT were retrospectively reviewed. Survival after HSCT was estimated using the Kaplan-Meier method. Results Nine patients received a traditional conditioning regimen (fludarabine + busulfan + cyclophosphamide/etoposide) and underwent peripheral blood stem cell transplantation (PBSCT). Thirteen patients received a TT-containing modified conditioning regimen (TT + fludarabine + busulfan + cyclophosphamide), including seven PBSCT and six umbilical cord blood transplantation (UCBT) cases. Successful engraftment with complete donor chimerism was achieved in all patients. Acute graft-versus-host disease occurred in 12 patients (one with grade III and the remaining with grade I-II). Chronic graft-versus-host disease occurred in one patient. The incidence of EB viremia in UCBT patients was lower than that in PBSCT patients (P<0.05). Over a median follow-up of 36.0 months, one death occurred. The 3-year overall survival (OS) rate was 100% for the modified regimen and 88.9% ± 10.5% for the traditional regimen (P=0.229). When comparing transplantation types, the 3-year OS rates were 100% for UCBT and 93.8% ± 6.1% for PBSCT (P>0.05), and the 3-year event-free survival rates were 100% and 87.1% ± 8.6%, respectively (P>0.05). Conclusions TT-containing conditioning for allogeneic HSCT in children with IEI is safe and effective. Both UCBT and PBSCT may achieve high success rates.