The most frequent sites of infection, common infectious complications, and common inflammatory complications due to chronic granulomatous disease (CGD) include1:
These symptoms usually appear in early childhood for patients with X-linked CGD.1 X-linked female carriers may experience similar discoid lupus-like symptoms.1
In patients with autosomal recessive CGD, symptoms present later in childhood and infections may be milder and less frequent.1
Look for pathogens that may indicate CGD
Many severe infections in patients with CGD in North America are caused by a select group of organisms, both bacterial and fungal.1,3-8 Most of these pathogens, including Aspergillus, Nocardia, Serratia, Burkholderia, Klebsiella, and Staphylococcus aureus are catalase-positive.3,4 In patients with CGD, these catalase-positive pathogens are noteworthy because they can neutralize some of the hydrogen peroxide produced by phagocytes other than those in nicotinamide adenine dinucleotide phosphate (NADPH) oxidase.4
Most frequent pathogens and common presentations associated with CGD*
*This is not a complete list of pathogens. Infections may also be caused by other species of bacteria and fungi not listed here.
*Serious infection is defined as a clinical event requiring hospitalization and intravenous antibiotics.
1. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews® Washington, Seattle: University of Washington, Seattle; 1993-2016. 2. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3-10. doi:10.1007/s12016-009-8136-z 3. Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeﬁciency. J Allergy Clin Immunol. 2015;136(5):1186-1205.e1-e78. doi:10.1016/j.jaci.2015.04.049 4. Bortoletto P, Lyman K, Camacho A, et al. Chronic granulomatous disease: a large, single-center US experience. Pediatr Infect Dis J. 2015;34(10):1110-1114. doi:10.1097/INF.0000000000000840 5. Leiding JW, Malech HL, Holland SM. Clinical Focus on Primary Immunodeﬁciencies: Chronic Granulomatous Disease. Immune Deficiency Foundation; 2013. 6. Marciano BE, Zerbe CS, Falcone EL, et al. X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability. J Allergy Clin Immunol. 2018;141(1):365-371. doi:10.1093/cid/ciu1154 7. Song E, Jaishankar GB, Saleh H, Jithpratuck W, Sahni R, Krishnaswamy G. Chronic granulomatous disease: a review of the infectious and inflammatory complications. Clin Mol Allergy. 2011;9(1):10-24. doi:10.1186/1476-7961-9-10 8. van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234. doi:10.1371/journal.pone.0005234