Other presentations
Uncommonly, chronic granulomatous disease (CGD) can present in the teenage and young adult years.[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
An uncommon cause of presentations is mycobacterial infections.[1]Rosenzweig SD, Uzel G, Holland SM. Phagocyte disorders. In: Stiehm ER, Ochs HD, Winkelstein JA, eds. Immunologic disorders in infants and children. Philadelphia, PA: Elsevier Saunders; 2004:618-51.[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
[5]Bustamante J, Aksu G, Vogt G, et al. BCG-osis and tuberculosis in a child with chronic granulomatous disease. J Allergy Clin Immunol. 2007 Jul;120(1):32-8.
http://www.ncbi.nlm.nih.gov/pubmed/17544093?tool=bestpractice.com
Chronic colitis (often diagnosed as inflammatory bowel disease) or symptoms of gastrointestinal (GI) or urinary tract obstruction may predate signs of infection.[6]Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004 Aug;114(2):462-8.
http://www.ncbi.nlm.nih.gov/pubmed/15286231?tool=bestpractice.com
[7]Huang JS, Noack D, Rae J, et al. Chronic granulomatous disease caused by a deficiency of p47phox mimicking Crohn's disease. Clin Gastroenterol Hepatol. 2004 Aug;2(8):690-5.
http://www.ncbi.nlm.nih.gov/pubmed/15290662?tool=bestpractice.com
[8]Huang A, Abbasakoor F, Vaizey CJ. Gastrointestinal manifestations of chronic granulomatous disease. Colorectal Dis. 2004 Aug;2(8):690-5.
http://www.ncbi.nlm.nih.gov/pubmed/16970572?tool=bestpractice.com
[9]Schappi MG, Smith VV, Goldblatt D, et al. Colitis in chronic granulomatous disease. Arch Dis Child. 2001 Feb;84(2):147-51.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1718666/pdf/v084p00147.pdf
http://www.ncbi.nlm.nih.gov/pubmed/11159292?tool=bestpractice.com
[10]Schappi MG, Klein NJ, Lindley KJ, et al. The nature of colitis in chronic granulomatous disease. J Pediatr Gastroenterol Nutr. 2003 May;36(5):623-31.
https://www.jpgn.org/pt/re/jpgn/fulltext.00005176-200305000-00006.htm
http://www.ncbi.nlm.nih.gov/pubmed/12717086?tool=bestpractice.com
[11]Walther MM, Malech H, Berman A, et al. The urological manifestations of chronic granulomatous disease. J Urol. 1992 May;147(5):1314-8.
http://www.ncbi.nlm.nih.gov/pubmed/1569675?tool=bestpractice.com
In one study, 33% of patients were documented with GI disease and accompanying abdominal pain.[6]Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004 Aug;114(2):462-8.
http://www.ncbi.nlm.nih.gov/pubmed/15286231?tool=bestpractice.com
Liver abscesses caused by Staphylococcus aureus, especially if chronic or recurrent, suggest a diagnosis of CGD.[12]Lublin M, Bartlett DL, Danforth DN, et al. Hepatic abscess in patients with chronic granulomatous disease. Ann Surg. 2002 Mar;235(3):383-91.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422444/?tool=pubmed
http://www.ncbi.nlm.nih.gov/pubmed/11882760?tool=bestpractice.com