Objective: To evaluate the efficacy of allogeneic hematopoietic stem cell transplantation for the treatment of combined immunodeficiency (CID) and explore prognostic risk factors. Methods: In this retrospective cohort study, clinical characteristics, laboratory tests and prognosis of 73 CID children who underwent allogeneic hematopoietic stem cell transplantation from February 2014 to April 2022 in the Children's Hospital of Fudan University were analyzed. Based on the subtypes of diseases, all patients were divided into severe combined immunodeficiency disease (SCID) group and other CID group. Based on the types of donors, all patients were divided into matched sibling donor group, matched unrelated donor group, unrelated cord blood group, and haploidentical donor group. Kaplan-Meier method and Log-Rank test were used to analyze the survival data. Cox regression was used to analyze prognostic factors. Results: Among the 73 patients, there were 61 (84%) males and 12 (16%) females. Fifty-five (75%) patients were SCID, and 18 (25%) patients were other CID. Donor source included 2 (3%) matched sibling donors (MSD), 3 (4%) matched unrelated donors (MUD), 64 (88%) unrelated cord blood (UCB), and 4 (5%) haploidentical donors. The age at transplant was 10.7 (5.9, 27.5) months, and the follow-up time was 36.2 (2.5, 62.9) months. The 3-year overall survival rate of 73 patients with CID was (67±6) %. No significant difference was found in the 3-year overall survival rates between patients with SCID (55 cases) and other CID (18 cases) ((64±7) % vs. (78±10) %, χ2=1.31, P=0.252). And no significant difference was found in the 3-year overall survival rates among patients who received MSD or MUD (5 cases), UCB (64 cases), and haploidentical donor (4 cases) transplant (100% vs. (66±6)% vs. (50±25) %, χ2=2.30, P=0.317). Cox regression analysis showed that the medical history of sepsis (HR=2.55, 95%CI 1.05-6.20, P=0.039) and hypoalbuminemia at transplant (HR=2.96, 95%CI 1.14-7.68, P=0.026) were independent risk factors for the prognosis of allogeneic hematopoietic stem cell transplantation in pediatric patients with CID. Conclusions: Allogeneic hematopoietic stem cell transplantation is an effective treatment for CID. The medical history of sepsis and hypoalbuminemia at transplant were risk factors for prognosis. Enhancing infection prevention and nutritional intervention before transplant can improve patient prognosis.
目的： 评价异基因造血干细胞移植治疗联合免疫缺陷病（CID）的效果并探讨预后相关因素。 方法： 回顾性队列研究。收集2014年2月至2022年4月复旦大学附属儿科医院行异基因造血干细胞移植治疗的73例CID患儿的临床特征、实验室检查及预后。根据疾病亚型分为重症联合免疫缺陷病（SCID）组和其他CID组，根据供者类型分为同胞相合供者组、非亲缘相合供者组、非亲缘脐带血组及单倍体供者组，采用Kaplan-Meier法对患儿进行生存分析并进行Log-Rank检验，Cox回归分析预后危险因素。 结果： 73例患儿中男61例（84%）、女12例（16%）。SCID 55例（75%），其他CID18例（25%）。同胞相合供者、非亲缘相合供者、非亲缘脐带血及单倍体供者分别为2例（3%）、3例（4%）、64例（88%）及4例（5%）。移植年龄10.7（5.9，27.5）月龄，随访时间36.2（2.5，62.9）个月。73例CID患儿的3年总生存率为（67±6）%。SCID组（55例）与其他CID组（18例）患儿3年总生存率差异无统计学意义［（64±7）%比（78±10）%，χ2=1.31，P=0.252］。同胞或非亲缘相合供者移植组（5例）、非亲缘脐带血移植组（64例）及单倍体供者移植组（4例）患儿3年总生存率分别为100%、（66±6）%、（50±25）%，组间比较差异无统计学意义（χ2=2.30，P=0.317）。Cox回归分析显示败血症病史（HR=2.55，95%CI 1.05~6.20，P=0.039）及移植前低白蛋白血症（HR=2.96，95%CI 1.14~7.68，P=0.026）是影响CID患儿移植预后的独立危险因素。 结论： 异基因造血干细胞移植治疗CID有效，移植前有败血症病史及低白蛋白血症是患儿预后危险因素，加强移植前感染预防及营养干预可改善患儿预后。.