Slatter M A, Gennery A R
Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Paediatric Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne NE1 4LP, UK.
J Clin Med. 2023 Sep 20;12(18):6083. doi: 10.3390/jcm12186083.
Chronic granulomatous disease (CGD) is an inborn error of immunity due to defects in the transport or function of subunits of nicotinamide adenine dinucleotide phosphate oxidase, the enzyme that generates the phagocyte respiratory burst responsible for intracellular killing of engulfed micro-organisms. Patients present with infectious or inflammatory complications. Common bacterial pathogens include and complex. Fungal pathogens include species, particularly . Inflammatory complications most commonly manifest as inflammatory bowel disease or lung disease. Granulomata are the distinguishing histological feature. Haematopoietic stem cell transplantation (HSCT) was first considered for CGD in the early 1970's. Since then, refinements in transplant technique, donor selection, conditioning regimens, and graft engineering have widened the option of HSCT to most patients with CGD. This review charts the progress made in HSCT for CGD.
慢性肉芽肿病（CGD）是一种先天性免疫缺陷病，由于烟酰胺腺嘌呤二核苷酸磷酸氧化酶亚基的转运或功能缺陷所致，该酶可产生吞噬细胞呼吸爆发，负责对吞噬的微生物进行细胞内杀伤。患者会出现感染性或炎症性并发症。常见的细菌病原体包括 和 复合体。真菌病原体包括 属物种，尤其是 。炎症性并发症最常见的表现为炎症性肠病或肺部疾病。肉芽肿是其独特的组织学特征。造血干细胞移植（HSCT）在20世纪70年代初首次被考虑用于治疗CGD。从那时起，移植技术、供体选择、预处理方案和移植物工程的改进，使大多数CGD患者都有了HSCT的选择。本综述阐述了HSCT治疗CGD所取得的进展。
