The most frequent sites of infection, common infectious complications, and common inflammatory complications due to chronic granulomatous disease (CGD) include1:
Symptoms in CGD carriers
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
Know how to identify the signs and symptoms of CGD. Early diagnosis is beneficial for patients with CGD because they are more susceptible to having a higher incidence of serious infections.1,2* If CGD is suspected, a dihydrorhodamine (DHR) test can confirm a diagnosis.
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*
Aspergillus species
Common presentation: pneumonia, lymphadenitis, osteomyelitis, brain abscess
Candida species
Common presentation: sepsis, soft tissue infection, liver abscess
BACTERIAL
Nocardia species
Common presentation: pneumonia, osteomyelitis, brain abscess
Serratia marcescens
More common presentation: osteomyelitis, soft tissue infections; less common presentation: pneumonia, sepsis
Burkholderia (pseudomonas) cepacia complex
Common presentation: pneumonia, sepsis
Klebsiella species
Common presentation: pneumonia, skin infections, lymphadenitis
Staphylococcus aureus
Common presentation: soft tissue infections, lymphadenitis, liver abscess, perirectal abscess, osteomyelitis, pneumonia, sepsis
*This is not a complete list of pathogens. Infections may also be caused by other species of bacteria and fungi not listed here.
Confirm a CGD diagnosis for your patient with a DHR test
Learn how to interpret DHR histograms when testing for CGD
*Serious infection is defined as a clinical event requiring hospitalization and intravenous antibiotics.
References:
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. 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. 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. 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. 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. 8. van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234.