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Physiology · Blood and immunity: adenosine deaminase deficiency
Sample itemAn infant has persistent infections with almost no T or B lymphocytes. Lymphocytes accumulate deoxyadenosine triphosphate, which inhibits ribonucleotide reductase. Which enzyme is deficient?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Adenosine deaminase
Adenosine deaminase deficiency allows deoxyadenosine and dATP to build up, which inhibits ribonucleotide reductase and kills dividing T and B lymphocytes, producing severe combined immunodeficiency. Purine nucleoside phosphorylase deficiency instead accumulates dGTP and mainly affects T cells.
Option by option
A. Xanthine oxidase
Xanthine oxidase deficiency causes xanthinuria and low uric acid.
B. Adenosine deaminase (correct)
Correct. ADA deficiency causes dATP accumulation and combined T and B lymphocyte loss.
C. Hypoxanthine-guanine phosphoribosyltransferase
HGPRT deficiency causes Lesch-Nyhan syndrome with hyperuricaemia, not immunodeficiency.
D. Purine nucleoside phosphorylase
PNP deficiency accumulates dGTP and mainly damages T cells.
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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