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Pathology · Immunodeficiency: chronic granulomatous disease
Sample itemA 3-year-old boy has recurrent liver and lung abscesses caused by Staphylococcus aureus and Aspergillus, and biopsy shows granulomas. Which investigation best demonstrates the underlying defect?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Dihydrorhodamine flow cytometry showing absent neutrophil oxidative burst
Chronic granulomatous disease results from NADPH oxidase defects, so phagocytes cannot generate superoxide and hydrogen peroxide for killing. Catalase-positive organisms such as Staphylococcus aureus, Aspergillus and Burkholderia are particularly dangerous because they destroy their own peroxide. Dihydrorhodamine flow cytometry, or the nitroblue tetrazolium test, shows failure of the oxidative burst.
Option by option
A. Flow cytometry for CD18 expression on neutrophils
CD18 flow cytometry is used for leukocyte adhesion deficiency type 1.
B. Total haemolytic complement (CH50) assay
CH50 screens for classical complement pathway deficiencies, which do not cause this picture.
C. Dihydrorhodamine flow cytometry showing absent neutrophil oxidative burst (correct)
Correct. Absent oxidative burst on dihydrorhodamine testing confirms chronic granulomatous disease.
D. Serum immunoglobulin levels
Immunoglobulins are typically normal in chronic granulomatous disease.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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