Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Department of Community Pediatrics, Perinatal, and Maternal Medicine, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Int J Hematol. 2022 Jul;116(1):7-15. doi: 10.1007/s12185-022-03389-7. Epub 2022 Jun 8.
Inborn errors of immunity (IEI) are caused by germline genetic mutations, resulting in defects of innate or acquired immunity. Hematopoietic cell transplantation (HCT) is indicated for curative therapy especially in patients with IEI who develop fatal opportunistic infections or severe manifestations of immune dysregulation. The first successful HCT for severe combined immunodeficiency (SCID) was reported in 1968. Since then, the indications for HCT have expanded from SCID to various non-SCID IEI. In general, HCT for IEI differs from that for other hematological malignancies in that the goal is not to eradicate certain immune cells but to achieve immune reconstitution. European Society for Blood and Marrow Transplantation/European Society for Immunodeficiencies guidelines recommend reduced-intensity conditioning to avoid treatment-related toxicity, and the optimal conditioning regimen should be considered for each IEI. We review conditioning regimens for some representative IEI disorders in Japanese and worldwide cohort studies, and future strategies for treating IEI.
先天性免疫缺陷(IEI)是由种系基因突变引起的,导致先天或获得性免疫缺陷。造血细胞移植(HCT)是一种有治愈可能的治疗方法,特别是对于那些发生致命性机会性感染或严重免疫失调表现的 IEI 患者。1968 年首次报道了用于治疗严重联合免疫缺陷(SCID)的成功 HCT。此后,HCT 的适应证已从 SCID 扩展到各种非-SCID IEI。一般来说,IEI 的 HCT 与其他血液系统恶性肿瘤不同,其目的不是消除某些免疫细胞,而是实现免疫重建。欧洲血液和骨髓移植学会/欧洲免疫缺陷学会指南建议采用减低强度的预处理方案以避免治疗相关毒性,并且应针对每种 IEI 考虑最佳的预处理方案。我们回顾了日本和全球队列研究中一些代表性的 IEI 疾病的预处理方案,并探讨了治疗 IEI 的未来策略。