Adenosine deaminase deficiency Quiz: Ace Your Exams
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A 12-month-old boy is brought to his primary care physician for evaluation of oral patches. Review of his medical record indicates a history of recurrent otitis media, pneumonia, chronic diarrhea and failure to thrive. Family history is non-contributory. Physical examination demonstrates a malnourished child, who appears small for his age. Oropharyngeal examination demonstrates scrapable white patches on the tongue but is otherwise unremarkable. Serum electrophoresis reveals low immunoglobulin levels, and a chest x-ray shows an absent thymic shadow. Deficiency of which of the following enzymes is most likely responsible for this patient’s condition?
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