Discussion
A child presents with recurrent bacterial infections, absent thymic shadow, and very low T-cell and B-cell counts. The most likely diagnosis is __________.
Answer: B
The most likely diagnosis is severe combined immunodeficiency (SCID).
SCID is a defect of both T-cell and B-cell function, so the child has very low counts of both and suffers repeated bacterial infections, along with viral and fungal ones. The thymus fails to develop properly, which explains the absent thymic shadow on a chest film.
HIV infection is acquired and does not present as absent B cells in a young child. Chronic granulomatous disease is a defect of phagocyte killing, with normal lymphocyte counts. DiGeorge syndrome also gives an absent thymus, but it affects the T-cell line and usually leaves B-cell numbers normal, so it does not fit very low B-cell counts.
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