Kang Elizabeth M, Malech Harry L
National Institutes of Health, Building 10-Room 6-3752, 10 Center Drive, Bethesda, Maryland 20892, USA.
Immunol Res. 2009;43(1-3):77-84. doi: 10.1007/s12026-008-8051-z.
Chronic granulomatous disease (CGD) is a rare congenital disorder resulting from a failure of neutrophils to produce oxidases. Patients are therefore prone to recurrent infections from various organisms including fungi and atypical bacteria. The mortality in patients with the X-linked form of CGD, the most common type, ranges from 3% to 5% per year and although management of infections has improved with advances in antimicrobial therapies, better methods are needed to be able to cure these patients. Peripheral blood stem cell or bone marrow transplantation, while curative, is not widely used due to the episodic nature of the infections and the belief by many that conservative management is preferable to the risks of transplantation. Still, as will be discussed, improvements in the field are making allogenic transplantation more desirable and tilting the risk benefit ratio in favor of this modality. Additionally, gene therapy, which has been a long touted method to cure CGD, has within the last 5-10 years become more and more of a reality and may be realized by the end of this decade.
慢性肉芽肿病（CGD）是一种罕见的先天性疾病，由中性粒细胞无法产生氧化酶所致。因此，患者容易受到包括真菌和非典型细菌在内的各种生物体的反复感染。最常见的X连锁型CGD患者的年死亡率为3%至5%。尽管随着抗菌治疗的进展，感染的管理有所改善，但仍需要更好的方法来治愈这些患者。外周血干细胞或骨髓移植虽然可以治愈，但由于感染的发作性以及许多人认为保守治疗优于移植风险，因此并未广泛应用。不过，正如将要讨论的那样，该领域的进展使同种异体移植更具吸引力，并使风险效益比倾向于这种治疗方式。此外，基因治疗长期以来一直被吹捧为治愈CGD的方法，在过去5至10年里越来越接近现实，可能在本十年末实现。
