Hashem Hasan, Ghatasheh Lubna, Najjar Rula, Mufarrej Duaa, Zandaki Duaa, Shanap Mayada Abu, Khattab Eman, Rihani Rawad, Sultan Iyad
Department of Pediatrics, Division of Pediatric Hematology Oncology and Bone Marrow Transplantation, King Hussein Cancer Center, 202 Queen Rania Street, Amman, 11941, Jordan.
Department of Pharmacy, King Hussein Cancer Center, Amman, Jordan.
J Clin Immunol. 2024 Dec 27;45(1):59. doi: 10.1007/s10875-024-01853-z.
Inborn errors of immunity (IEI) are a heterogenous group of rare monogenic disorders that affect innate or adaptive immunity, resulting in susceptibility to life-threatening infections and autoimmunity. Allogeneic hematopoietic cell transplantation (HCT) is a valuable curative option for children with IEI. We conducted a retrospective single-center study on the outcome of HCT in children with IEI. Primary outcome was overall survival (OS). We gathered data from 55 patients underwent HCT in the period 2014 to 2023. The indications for HCT were CGD (n = 14), HLH (n = 12), SCID (n = 10), and others (n = 19). Median age at HCT was 3 years (range 0.1-17). Donors were HLA-matched related (n = 27), haploidentical (n = 24), and cord (n = 4). The conditioning regimens were myeloablative (n = 34), reduced intensity (n = 18), or no conditioning (n = 3). After a median follow-up of 43 months (range 13-120), 2-year OS was 93%, 2-year EFS 79% and 2 year GvHD-free relapse-free survival (GRFS) was 69%. Univariate analysis showed that bone marrow source was significantly associated with better EFS and GRFS. Cumulative incidence of grade 2-4 acute and moderate/severe chronic GvHD were 21% and 13%, respectively. Incidence of graft failure was 13%. In conclusion, HCT is feasible and curative in children with IEI. Early diagnosis and referral in addition to timely treatment can further improve outcomes.
遗传性免疫缺陷病（IEI）是一组异质性罕见单基因疾病，会影响先天性或适应性免疫，导致易患危及生命的感染和自身免疫性疾病。异基因造血细胞移植（HCT）是治疗患有IEI的儿童的一种有价值的治愈性选择。我们对患有IEI的儿童进行了一项关于HCT结局的回顾性单中心研究。主要结局是总生存期（OS）。我们收集了2014年至2023年期间接受HCT的55例患者的数据。HCT的适应症包括慢性肉芽肿病（CGD，n = 14）、噬血细胞性淋巴组织细胞增生症（HLH，n = 12）、重症联合免疫缺陷病（SCID，n = 10）以及其他疾病（n = 19）。HCT时的中位年龄为3岁（范围0.1 - 17岁）。供体为人类白细胞抗原（HLA）匹配的亲属（n = 27）、单倍体相合（n = 24）和脐带血（n = 4）。预处理方案为清髓性（n = 34）、减低强度（n = 18）或无预处理（n = 3）。中位随访43个月（范围13 - 120个月）后，2年总生存率生存率率存率为93%，2年无事件生存率为79%，2年无移植物抗宿主病（GvHD）无复发生存率为69%。单因素分析显示，骨髓来源与更好的无事件生存率和无GvHD无复发生存率显著相关。2 - 4级急性和中度/重度慢性GvHD的累积发生率分别为21%和13%。移植物失败的发生率为13%。总之，HCT对患有IEI的儿童是可行且可治愈的。除了及时治疗外，早期诊断和转诊可进一步改善结局。
