Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Paediatric Immunology and Haematopoietic Stem Cell Transplantation, Great North Children's Hospital, Newcastle upon Tyne, UK.
Br J Haematol. 2021 Jan;192(2):251-264. doi: 10.1111/bjh.16939. Epub 2020 Jul 8.
Chronic granulomatous disease is a primary immunodeficiency due to a defect in one of six subunits that make up the nicotinamide adenine dinucleotide phosphate oxidase complex. The most commonly defective protein, gp91 , is inherited in an X-linked fashion; other defects have autosomal recessive inheritance. Bacterial and fungal infections are common presentations, although inflammatory complications are increasingly recognized as a significant cause of morbidity and are challenging to treat. Haematopoietic stem cell transplantation offers cure from the disease with improved quality of life; overall survival in the current era is around 85%, with most achieving long-term cure free of medication. More recently, gene therapy is emerging as an alternative approach. Results using gammaretroviral vectors were disappointing with genotoxicity and loss of efficacy, but preliminary results using lentiviral vectors are extremely encouraging.
慢性肉芽肿病是一种原发性免疫缺陷病，由组成烟酰胺腺嘌呤二核苷酸磷酸氧化酶复合物的六个亚单位之一的缺陷引起。最常见的缺陷蛋白 gp91 以 X 连锁方式遗传；其他缺陷为常染色体隐性遗传。细菌和真菌感染是常见的表现，尽管炎症并发症越来越被认为是发病率的一个重要原因，且治疗具有挑战性。造血干细胞移植可通过提高生活质量来治愈该疾病；在当前时代，总体存活率约为 85%，大多数患者无需药物治疗即可长期治愈。最近，基因治疗作为一种替代方法出现。使用γ逆转录病毒载体的结果令人失望，存在遗传毒性和疗效丧失，但使用慢病毒载体的初步结果非常令人鼓舞。
