Paediatric Immunology and HSCT, Newcastle University, Newcastle upon Tyne, United Kingdom.
Translational and Clinical Research Institute, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.
Front Immunol. 2023 Apr 5;14:1162605. doi: 10.3389/fimmu.2023.1162605. eCollection 2023.
Patients with inborn errors of immunity (IEI) have been transplanted for more than 50 years. Many long-term survivors have ongoing medical issues showing the need for further improvements in how hematopoietic stem cell transplantation (HSCT) is performed if patients in the future are to have a normal quality of life. Precise genetic diagnosis enables early treatment before recurrent infection, autoimmunity and organ impairment occur. Newborn screening for severe combined immunodeficiency (SCID) is established in many countries. For newly described disorders the decision to transplant is not straight-forward. Specific biologic therapies are effective for some diseases and can be used as a bridge to HSCT to improve outcome. Developments in reduced toxicity conditioning and methods of T-cell depletion for mismatched donors have made transplant an option for all eligible patients. Further refinements in conditioning plus precise graft composition and additional cellular therapy are emerging as techniques to personalize the approach to HSCT for each patient.
患有先天性免疫缺陷(IEI)的患者已经接受移植治疗超过 50 年。许多长期存活的患者仍存在持续的医疗问题,这表明如果未来的患者想要拥有正常的生活质量,就需要进一步改进造血干细胞移植(HSCT)的实施方法。精确的基因诊断可在反复感染、自身免疫和器官损伤发生之前进行早期治疗。许多国家已经建立了新生儿严重联合免疫缺陷(SCID)的筛查。对于新描述的疾病,移植的决策并不简单。对于某些疾病,特定的生物疗法是有效的,并且可以作为 HSCT 的桥梁,以改善预后。降低毒性预处理以及用于不匹配供体的 T 细胞耗竭方法的发展使移植成为所有符合条件的患者的选择。进一步完善预处理方案加上精确的移植物组成和额外的细胞治疗,作为针对每位患者的 HSCT 方法进行个体化的新技术正在出现。