What causes chronic granulomatous disease (CGD)?

Updated: Jul 29, 2019
  • Author: Roman J Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Answer

The main defect in chronic granulomatous disease (CGD) is a failure of neutrophils, monocytes, macrophages, and eosinophils to mount a respiratory burst and, therefore, to generate superoxide anions and other reactive oxygen species derived from superoxide, such as hydrogen peroxide. This renders the patients susceptible to severe, recurrent bacterial and fungal infections. The intracellular survival of ingested bacteria leads to the development of granulomata in the lymph nodes, skin, lungs, liver, gastrointestinal tract, and/or bones.

Leukocytes ingest bacteria but do not kill them because of a defect in the production of the superoxide anion.

Most infections in CGD are caused by Staphylococcus aureus. Infections are also caused by unusual opportunistic organisms such as Chromobacterium violaceum; Serratia marcescens; and Nocardia, Legionella, and atypical Mycobacteria species.

BCG vaccination may cause CGD.

Fungal infections in CGD patients have been reported to account for approximately 20% of infections. The most common fungal infections in these patients are caused by Aspergillus species. The spectrum of infection caused by Aspergillus species varies from flulike pneumonia to life-threatening invasive aspergillosis. The most common form of aspergillosis in chronic granulomatous disease patients is Aspergillus pneumonia, which can be accompanied by dissemination to the ribs, chest wall, and soft tissues. Infections with Aspergillus species, particularly of the lungs or bones, are difficult to eradicate.

The most common infecting organisms, on the basis of the type and site of infection, include the following [11] :

  • Pneumonia -  Aspergillus species , Staphylococcus aureus, Nocardia, and Serratia species and Burkholderia cepacia (formerly Pseudomonas cepacia) [12]
  • Subcutaneous, liver, or perirectal abscess - Staphylococcus, Serratia, and Aspergillus species
  • Lung abscess - Aspergillus species
  • Brain abscess - Aspergillus species
  • Suppurative adenitis - Staphylococcus and Serratia species
  • Osteomyelitis - Can arise from hematogenous spread of organisms ( S aureus, Salmonella species, S marcescens) or contiguous invasion of bone, seen typically with non– Aspergillus fumigatus pneumonia, such as Aspergillus nidulans spreading to the ribs or vertebral bodies [1]
  • Bacteremia and/or fungemia -Salmonella and Candida species and B cepacia 
  • Other frequently encountered catalase-positive microbial agents -  Escherichia coli species, Listeria species, Klebsiella species, and  Nocardia.

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