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Pathology · Immunopathology: mendelian susceptibility to mycobacterial disease
Sample itemA 3-year-old develops disseminated infection with a weakened mycobacterium after BCG vaccination, with poorly formed granulomas. T and B cell numbers and immunoglobulins are normal. Which pathway is most likely defective?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. The IL-12 and interferon-gamma axis
Defects of IL-12, the IL-12 receptor, interferon-gamma or its receptor prevent Th1 cells and macrophages from activating each other, so intracellular mycobacteria and Salmonella are not contained. Granuloma formation is poor and the immunoglobulins are normal.
Option by option
A. The classical complement pathway
Classical complement deficiency predisposes to immune complex disease.
B. The IgE receptor on mast cells
The IgE receptor is involved in allergic, not mycobacterial, responses.
C. The NADPH oxidase respiratory burst
NADPH oxidase defect gives chronic granulomatous disease, with catalase-positive bacteria and fungi.
D. The IL-12 and interferon-gamma axis (correct)
Correct. Without IL-12 and interferon-gamma signalling, macrophages cannot kill mycobacteria.
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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