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PNP Deficiency

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acorrigan's version from 2017-05-11 20:20

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Question Answer
What are the clinical manifestations of PNP deficiency?Failure to thrive, recurrent infections, absent T-lymphocytes, neurological impairment
What is the inheritance pattern?Autosomal recessive
What chromosome is PNP located on?14q
Why does it specifically affect T-lymphocytes?Deoxy guanosine triphosphate accumulates which inhibits DNA synthesis via RNA reductase inhibition
What is the normal function of PNP?To convert inosine and guanine to hypoxanthine
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