In the US, Europe, and Japan, estimated incidence of chronic granulomatous disease (CGD) is between 1 in 200,000 and 1 in 250,000 of live births.[3]Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000 May;79(3):155-69.
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(4):e5234.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668749/?tool=pubmed
http://www.ncbi.nlm.nih.gov/pubmed/19381301?tool=bestpractice.com
[13]Hasui M. Chronic granulomatous disease in Japan: incidence and natural history. The Study Group of Phagocyte Disorders of Japan. Pediatr Int. 1999 Oct;41(5):589-93.
http://www.ncbi.nlm.nih.gov/pubmed/10530081?tool=bestpractice.com
[14]Rider NL, Jameson MB, Creech CB. Chronic granulomatous disease: epidemiology, pathophysiology, and genetic basis of disease. J Pediatric Infect Dis Soc. 2018 May 9;7(suppl 1):S2-S5.
https://www.doi.org/10.1093/jpids/piy008
http://www.ncbi.nlm.nih.gov/pubmed/29746675?tool=bestpractice.com
Males are predominantly affected, as the majority of cases are X-linked (approximately 65% to 70% of cases).[3]Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000 May;79(3):155-69.
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(4):e5234.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668749/?tool=pubmed
http://www.ncbi.nlm.nih.gov/pubmed/19381301?tool=bestpractice.com
[15]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 Dec;125(6 Pt 1):998-1003.
http://www.ncbi.nlm.nih.gov/pubmed/7996377?tool=bestpractice.com
[16]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 Feb;126(2):155-64.
http://www.ncbi.nlm.nih.gov/pubmed/18037347?tool=bestpractice.com
Just under 40% of patients in the US are diagnosed before the age of 1, with the majority of patients diagnosed by age 5.[3]Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000 May;79(3):155-69.
http://www.ncbi.nlm.nih.gov/pubmed/10844935?tool=bestpractice.com
The condition may remain undiagnosed until the adult years, with the majority of late diagnoses having autosomal recessive forms of the disease.[3]Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000 May;79(3):155-69.
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(4):e5234.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668749/?tool=pubmed
http://www.ncbi.nlm.nih.gov/pubmed/19381301?tool=bestpractice.com
The United States Immunodeficiency Network (USIDNET) has an online registry of patients with primary immunodeficiency diseases including CGD.
The United States Immunodeficiency Network
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