Department of Clinical Hematology, Armed force Bone Marrow Transplant Centre / National Institute of Bone Marrow Transplant, Combined Military Hospital, Rawalpindi, Pakistan.
J Coll Physicians Surg Pak. 2023 Mar;33(3):341-345. doi: 10.29271/jcpsp.2023.03.341.
To determine the outcomes of allogeneic HSCT in children with primary immune system disorders (PID).
Descriptive Cross-sectional study. Place and Duration of the Study: Armed Forces bone marrow transplant centre / National Institute of Bone Marrow Transplant (AFBMTC / NIBMT), Rawalpindi, Pakistan, from October 2012 to December 2021.
Data of all cases undergoing HSCT for immune system disorders were analysed for variables affecting outcome and overall survival in the first 180 days after allogeneic HSCT. All patients presenting to AFBMTC / NIBMT with PID, age <12 years. Patients with organ dysfunction secondary to repeated infections were excluded from the study. Data of all patients and their donors undergoing HSCT for immune system disorders were analysed for variables affecting outcome and overall survival in the first 180 days after allogeneic bone marrow transplant. Neutrophil engraftment was defined as absolute neutrophil count ≥0.5 × 109/L for 3 consecutive days, while platelet engraftment as platelet count ≥20 × 109/L without platelet transfusion for one week. Overall survival (OS) was taken as time from the date of HSCT till day + 180 post-transplant.
A total of 42children including 29 boys and 13 girls underwent HSCT for PID. The mean age was 2.1±2.8 years. Underlying diagnosis was haemophagocytic lymphohistiocytosis (HLH), severe immune deficiency (SCID), leukocyte adhesion defect (LAD), X-linked agammaglobulinemia, chronic granulomatous disease (CGD) and Job's syndrome in 18 (42.9%), 16 (38.1%), 3(7.1%), 2 (4.8%), 2 (4.8%) and 1 (2.4%) patients respectively. Thirty-one (73.8%) children had fully HLA-matched donors while 11 (26.2%) had haplo-matched donors. Major immediate post-transplant complications were febrile neutropenia, mucositis and SOS/VOD in 31 (73.8%), 9 (21.4%) and 4 (10.0%) cases, respectively. Eight (19.0%) had CMV reactivation, acute GVHD was seen in 17 (40.4%) cases, while 1 (2.3%) case had chronic GVHD. Twelve (28.6%) patients died, out of which 5 had graft failure, 3 had VOD, 2 had pneumonia, 1 had severe GVHD, and 1 died due to seizures. Overall survival (OS) in this study was 71.4% with survival reaching up to 80.6% in fully matched HSCT.
HLH and SCID were the commonest immune disorders requiring HSCT. Graft failure leading to neutropenic sepsis was the commonest cause of mortality. OS was better in fully matched HSCT as compared to haplo-identical HSCT.
Immune deficiency, Severe combined immunodeficiency, Haematopoietic stem cell transplantation.
确定原发性免疫系统疾病（PID）患儿同种异体 HSCT 的结果。
描述性横断面研究。研究地点和时间：巴基斯坦拉瓦尔品第武装部队骨髓移植中心/国家骨髓移植研究所（AFBMTC/NIBMT），2012 年 10 月至 2021 年 12 月。
分析所有因免疫系统疾病接受 HSCT 的患者的数据，以确定影响同种异体 HSCT 后 180 天内结局和总体生存的变量。所有因 PID 而就诊于 AFBMTC/NIBMT、年龄<12 岁的患者。因反复感染导致器官功能障碍的患者被排除在研究之外。分析所有因免疫系统疾病接受 HSCT 的患者及其供者的数据，以确定影响同种异体骨髓移植后 180 天内结局和总体生存的变量。中性粒细胞植入定义为连续 3 天绝对中性粒细胞计数≥0.5×109/L，血小板植入定义为血小板计数≥20×109/L，且无血小板输注持续一周。总生存（OS）定义为从 HSCT 日期到移植后第 180 天的时间。
共有 42 名儿童（29 名男孩和 13 名女孩）因 PID 接受 HSCT。平均年龄为 2.1±2.8 岁。基础诊断为噬血细胞性淋巴组织细胞增生症（HLH）、严重免疫缺陷（SCID）、白细胞黏附缺陷（LAD）、X 连锁无丙种球蛋白血症、慢性肉芽肿病（CGD）和 Job 综合征，分别为 18 例（42.9%）、16 例（38.1%）、3 例（7.1%）、2 例（4.8%）、2 例（4.8%）和 1 例（2.4%）。31 例（73.8%）患儿有完全 HLA 匹配供者，11 例（26.2%）有半相合供者。主要的即刻移植后并发症包括发热性中性粒细胞减少症、黏膜炎和 SOS/VOD，分别为 31 例（73.8%）、9 例（21.4%）和 4 例（10.0%）。8 例（19.0%）出现 CMV 再激活，17 例（40.4%）出现急性移植物抗宿主病，1 例（2.3%）出现慢性移植物抗宿主病。12 例（28.6%）患者死亡，其中 5 例发生移植物衰竭，3 例发生 VOD，2 例发生肺炎，1 例发生严重移植物抗宿主病，1 例因癫痫发作死亡。本研究中的总体生存率（OS）为 71.4%，完全匹配 HSCT 的生存率达到 80.6%。
HLH 和 SCID 是最常见的需要 HSCT 的免疫疾病。导致中性粒细胞减少性败血症的移植物衰竭是导致死亡率的最常见原因。与半相合 HSCT 相比，完全匹配的 HSCT 的 OS 更好。
免疫缺陷；严重联合免疫缺陷；造血干细胞移植。
