在美国、欧洲及日本,估计发病率为每 200,000 至 250,000 名活产儿中有一例。[3]Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155-169.http://www.ncbi.nlm.nih.gov/pubmed/10844935?tool=bestpractice.com[4]van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4:e5234.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668749/?tool=pubmedhttp://www.ncbi.nlm.nih.gov/pubmed/19381301?tool=bestpractice.com 英国一家注册处提供的数据为,1980-1989年的患病率为8.5/100,000,1990-1999年的患病率为7.5/100,000。[13]Jones LB, McGrogan P, Flood TJ, et al. Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin Exp Immunol. 2008;152:211-218.http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2249.2008.03644.x/fullhttp://www.ncbi.nlm.nih.gov/pubmed/18410635?tool=bestpractice.com 主要患者为男性,因为大多数病例为 X 连锁遗传病(65%-70% 的病例)。[3]Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155-169.http://www.ncbi.nlm.nih.gov/pubmed/10844935?tool=bestpractice.com[4]van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4:e5234.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668749/?tool=pubmedhttp://www.ncbi.nlm.nih.gov/pubmed/19381301?tool=bestpractice.com[14]Mouy R, Veber F, Blanche S, et al. Long-term itraconazole prophylaxis against Aspergillus infections in thirty-two patients with chronic granulomatous disease. J Pediatr. 1994;125:998-1003.http://www.ncbi.nlm.nih.gov/pubmed/7996377?tool=bestpractice.com[15]Martire B, Rondelli R, Soresina A, et al. Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicenter study. Clin Immunol. 2008;126:155-164.http://www.ncbi.nlm.nih.gov/pubmed/18037347?tool=bestpractice.com 在英国,不足 40% 的患者在其 1 岁前被诊断出该病,多数患者在 5 岁前被诊断出该病。[3]Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155-169.http://www.ncbi.nlm.nih.gov/pubmed/10844935?tool=bestpractice.com 在英国,诊断出该病的中位年龄为 2.7 岁。[13]Jones LB, McGrogan P, Flood TJ, et al. Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin Exp Immunol. 2008;152:211-218.http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2249.2008.03644.x/fullhttp://www.ncbi.nlm.nih.gov/pubmed/18410635?tool=bestpractice.com 该病可能直到成年才被确诊,而且多数较晚诊断出的病例为常染色体隐性遗传 CGD。[3]Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155-169.http://www.ncbi.nlm.nih.gov/pubmed/10844935?tool=bestpractice.com[4]van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4:e5234.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668749/?tool=pubmedhttp://www.ncbi.nlm.nih.gov/pubmed/19381301?tool=bestpractice.com