Chronic granulomatous disease (CGD)
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A boy has recurrent abscesses (skin, liver, lungs) and lymphadenitis. Cultures grow catalase-positive organisms (Staph aureus, Aspergillus). DHR flow cytometry is abnormal.
XLR (CYBB, 70%) or AR (CYBA, NCF1, NCF2, NCF4)
- NADPH oxidase deficiency
- Recurrent infections with catalase-positive organisms (Staph, Serratia, Aspergillus, Nocardia)
- Abscesses (skin, liver, lung, lymph nodes)
- Granuloma formation
- Inflammatory complications (GI, GU obstruction)
- Abnormal DHR or NBT test
- Dihydrorhodamine (DHR123) flow cytometry: measures the oxidative burst; the more sensitive and quantitative first-line functional test
- Nitroblue tetrazolium (NBT) slide test: older qualitative assay; neutrophils fail to reduce dye to blue formazan
- Confirmatory molecular testing of CYBB, CYBA, NCF1, NCF2, NCF4 to define genotype and inheritance
- Carrier testing of at-risk female relatives (X-linked CYBB shows a mosaic/bimodal DHR pattern)
- Prophylactic antibiotics/antifungals, interferon-gamma, HSCT
The name is descriptive. Look for a patient with multiple chronic infections.
Patients may have acne-like bumps on their skin (granulomas), which reflect localized areas of inflammation. These inflammatory "bumps" can also be found in the internal organs (lungs, lymph nodes, bone).