Translational and Clinical Research Institute, Newcastle University, UK; Paediatric Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, UK.
Translational and Clinical Research Institute, Newcastle University, UK; Paediatric Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, UK.
Clin Immunol. 2022 Sep;242:109084. doi: 10.1016/j.clim.2022.109084. Epub 2022 Aug 5.
Severe Combined Immunodeficiency (SCID) is the most profound inborn error of immunity affecting cellular and humoral immunity. Hematopoietic stem cell transplantation has been a curative treatment since 1968. Huge progress has been made since then in understanding the underlying genetics, improving outcomes from transplant, and introducing gene therapy in particular for adenosine deaminase deficient- and IL2 receptor gamma-deficient SCID. Newborn screening has been widely introduced across the world to enable definitive treatment before infection occurs. This article aims to review the latest evidence on how to achieve curative treatment with minimal short- and long-term toxicity, normal immune reconstitution and good quality of life.
严重联合免疫缺陷病(SCID)是一种最严重的先天性免疫缺陷病,影响细胞免疫和体液免疫。自 1968 年以来,造血干细胞移植一直是一种治愈性治疗方法。此后,在理解潜在遗传学、改善移植结果以及特别是针对腺苷脱氨酶缺陷和 IL2 受体γ缺陷 SCID 引入基因治疗方面取得了巨大进展。全世界广泛开展了新生儿筛查,以便在感染发生之前进行确定性治疗。本文旨在综述如何实现最小化短期和长期毒性、正常免疫重建和良好生活质量的治愈性治疗的最新证据。