Ariffin Hany, Ab Rahman Syaza, Jawin Vida, Foo Jen Chun, Amram Nur Faizana, Mahmood Nur Mahirah, Yap Tsiao Yi, Rajagopal Revathi, Lum Su Han, Chan Lee Lee, Lin Hai Peng
Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.
Paediatric Haematology-Oncology and Bone Marrow Transplantation Unit, University of Malaya Medical Centre, Kuala Lumpur, Malaysia.
J Paediatr Child Health. 2020 Mar;56(3):379-383. doi: 10.1111/jpc.14621. Epub 2019 Sep 3.
Inborn errors of immunity (IEI) comprise a heterogeneous group of disorders of the immune system, most of which are curable by haematopoietic stem cell transplantation (HSCT). We present a 25-year audit of HSCT for IEI at a tertiary-level academic hospital in Malaysia.
Review of medical records of all cases of IEI who underwent HSCT between January 1993 and December 2018 at our centre. Diagnoses, complications, HSCT protocols and outcome data were studied.
There were 20 patients (19 boys) with a median age at diagnosis of 11 months (range: 2 months to 12 years). Eleven of 19 (58%) had malnutrition at presentation. Donor sources were variable: 13 (65%) matched sibling donor (MSD), 4 (20%) human leukocyte antigen-haploidentical donor (HD) and 3 (15%) matched unrelated donor (MUD). Conditioning regimens were physician-dependent and adapted to each patient's clinical status. Grades III-IV acute graft-versus-host disease occurred in two of three cases who received MUD grafts, 50% in those who received HD, and 8% in the MSD group. Transplant-related mortality at day +100 was 5%. With a median follow-up of 7.5 years, 18 (90%) patients are alive and free of infections.
Outcome of HSCT for IEI in our centre is comparable with international reports. HSCT results using HD and MUD grafts are also good despite challenges from acute graft-versus-host disease, providing a feasible alternative for patients without matched donors.
遗传性免疫缺陷病（IEI）是一组免疫系统的异质性疾病，其中大多数可通过造血干细胞移植（HSCT）治愈。我们对马来西亚一家三级学术医院进行的IEI患者HSCT治疗进行了为期25年的审核。
回顾1993年1月至2018年12月在我们中心接受HSCT的所有IEI病例的病历。研究诊断、并发症、HSCT方案和结局数据。
共有20例患者（19名男孩），诊断时的中位年龄为11个月（范围：2个月至12岁）。19例中有11例（58%）在就诊时存在营养不良。供体来源各不相同：13例（65%）为匹配的同胞供体（MSD），4例（20%）为人白细胞抗原单倍体相同供体（HD），3例（15%）为匹配的无关供体（MUD）。预处理方案取决于医生，并根据每位患者的临床状况进行调整。接受MUD移植的3例患者中有2例发生III-IV级急性移植物抗宿主病，接受HD移植的患者中发生率为50%，MSD组为8%。移植后100天的移植相关死亡率为5%。中位随访7.5年，18例（90%）患者存活且无感染。
我们中心IEI患者HSCT的结局与国际报告相当。尽管存在急性移植物抗宿主病的挑战，但使用HD和MUD移植物进行HSCT的结果也很好，为没有匹配供体的患者提供了一种可行的替代方案。
