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Microbiology · Immunology: severe combined immunodeficiency
Sample itemA 4-month-old infant has persistent oral thrush, chronic diarrhoea, failure to thrive and profound lymphopenia, and developed disseminated disease after BCG vaccination. What is the definitive treatment?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Early allogeneic haematopoietic stem cell transplantation
Severe combined immunodeficiency involves absent T cell function, with B or NK cell defects depending on the gene, and is fatal in infancy without correction. Live vaccines are contraindicated. Definitive treatment is haematopoietic stem cell transplant, ideally before infections develop, with gene therapy for selected types.
Option by option
A. Monthly intravenous immunoglobulin alone
Immunoglobulin replacement corrects antibody deficiency only, not the T cell defect.
B. Early allogeneic haematopoietic stem cell transplantation (correct)
Correct. Transplant reconstitutes the missing lymphocyte compartment.
C. Long-term antifungal prophylaxis alone
Antifungals treat infection but do not correct the underlying immune failure.
D. Recombinant G-CSF
G-CSF raises neutrophil counts and does not restore lymphocyte function.
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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