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Microbiology · Immunology
Sample itemA newborn has tetany from hypocalcaemia, a conotruncal cardiac defect and absent thymic shadow on chest film, with recurrent viral and fungal infections. Which deficiency is expected?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. T-cell deficiency from failure of third and fourth pharyngeal pouch development
DiGeorge syndrome results from a 22q11.2 deletion with defective development of the third and fourth pharyngeal pouches, causing thymic hypoplasia (low T cells), hypoparathyroidism with hypocalcaemia, and cardiac outflow defects. B-cell numbers are usually normal.
Option by option
A. T-cell deficiency from failure of third and fourth pharyngeal pouch development (correct)
Correct. Thymic and parathyroid aplasia with cardiac anomalies defines the syndrome.
B. Phagocyte oxidase deficiency
Phagocyte oxidase deficiency is chronic granulomatous disease with catalase-positive infections.
C. Terminal complement component deficiency
Terminal complement deficiency causes recurrent Neisseria infections.
D. B-cell deficiency with absent immunoglobulins from a tyrosine kinase defect
Absent immunoglobulins from a Bruton tyrosine kinase defect describes X-linked agammaglobulinaemia.
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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