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Microbiology · Immunology
Sample itemA boy aged 18 months has recurrent otitis, sinusitis and pneumonia due to encapsulated bacteria. All immunoglobulin classes are very low and CD19-positive B cells are absent, with normal T cells. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. X-linked agammaglobulinaemia
Bruton agammaglobulinaemia is due to a BTK gene mutation that blocks B cell maturation. Infections begin after maternal IgG wanes at about six months and mainly involve encapsulated bacteria, with low immunoglobulins and absent B cells.
Option by option
A. X-linked agammaglobulinaemia (correct)
A BTK defect produces absent B cells and low immunoglobulins with normal T cells.
B. DiGeorge syndrome
DiGeorge syndrome involves thymic hypoplasia with T cell deficiency and hypocalcaemia.
C. Severe combined immunodeficiency
SCID has defective T cells and presents earlier with severe viral and fungal infections.
D. Chronic granulomatous disease
Chronic granulomatous disease is a phagocyte defect with infections by catalase-positive organisms.
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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