Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.
Scand J Immunol. 2012 Nov;76(5):505-11. doi: 10.1111/j.1365-3083.2012.02771.x.
Chronic granulomatous disease (CGD) is a rare inherited disorder of the innate immune system caused by a defect in NADPH oxidase, leaving the granulocytes unable to kill invading microorganisms. CGD is caused by mutation in one of the five components gp91phox, p22phox, p47phox, p67phox and p40phox, encoded by the X-linked CYBB gene and the autosomal CYBA, NCF1, NCF2 and NCF4 genes respectively. We have collected samples from all Danish patients with known CGD followed in the clinic or newly diagnosed during a 5-year period, a cohort of 27 patients, and characterized them genetically. The cohort includes 10 male patients with X-linked CGD and one female with extremely lyonized expression of a defective CYBB allele. Six patients had mutation in CYBA. Seven of 10 patients with a defect in NCF1 were homozygous for the common GT deletion, one was compound heterozygous for the GT deletion and a splice-site mutation, and two patients were homozygous for a nonsense mutation in exon 7. Three novel mutations were detected, a deletion of exon 6 in CYBA, a duplication of exon 8-13 in CYBB and a splice site mutation in intron 7 of NCF1.
慢性肉芽肿病（CGD）是一种罕见的遗传性先天免疫系统疾病，由 NADPH 氧化酶缺陷引起，导致粒细胞无法杀死入侵的微生物。CGD 是由 X 连锁 CYBB 基因和常染色体 CYBA、NCF1、NCF2 和 NCF4 基因编码的五个成分 gp91phox、p22phox、p47phox、p67phox 和 p40phox 之一的突变引起的。我们收集了在诊所随访或在 5 年内新诊断为 CGD 的所有丹麦患者的样本，共 27 例，并对其进行了基因特征分析。该队列包括 10 名男性 X 连锁 CGD 患者和 1 名 X 连锁 CGD 患者，其 CYBB 等位基因存在极度 Lyon 化表达缺陷。6 名患者存在 CYBA 突变。10 名 NCF1 缺陷患者中有 7 名纯合 GT 缺失，1 名复合杂合 GT 缺失和剪接位点突变，2 名患者为 exon7 无义突变纯合子。检测到 3 种新突变，CYBA 缺失 exon6、CYBB 缺失 exon8-13 以及 NCF1 内含子 7 的剪接位点突变。
