Institute of Child Health, University College London and The Great Ormond Street Hospital for Sick Children NHS Foundation Trust, 30 Guilford Street, London WC1N 1EH, UK.
J Infect. 2014 Nov;69 Suppl 1:S32-5. doi: 10.1016/j.jinf.2014.07.013. Epub 2014 Sep 26.
Chronic Granulomatous Disease (CGD) is a primary immunodeficiency caused by abnormities in the NADPH Oxidase that is involved in the respiratory burst responsible for initiating the killing of microbes ingested by phagocytic cells. The hallmark of CGD is recurrent infection but the inflammatory complications can prove difficult to treat. New insights into the mechanisms responsible for the inflammatory complications have led to new therapies. The treatment of CGD colitis with an anti-tumour necrosis alpha agent has been shown to be successful but associated with significant infectious complications. Haematopoietic stem cell transplants offer the possibility of cure for those with ether a matched or unrelated donor transplant, with results of the latter improving significantly over recent years. Gene Therapy offers the promise of cure without the need for a transplant but better vectors are required.
慢性肉芽肿病（CGD）是一种原发性免疫缺陷病，由 NADPH 氧化酶异常引起，该酶参与呼吸爆发，负责启动吞噬细胞吞噬的微生物的杀伤。CGD 的标志是反复感染，但炎症并发症可能难以治疗。对炎症并发症的机制的新认识导致了新的治疗方法。用抗肿瘤坏死因子-α 制剂治疗 CGD 结肠炎已被证明是成功的，但与严重的感染并发症相关。造血干细胞移植为那些有匹配或无关供体移植的患者提供了治愈的可能性，近年来后者的结果有了显著改善。基因治疗提供了无需移植即可治愈的希望，但需要更好的载体。
