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Purine nucleoside phosphorylase deficiency

combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has material basis in mutation in the PNP gene and characterized mainly by decreased T-cell function

Pronunciation
/ˈpjʊrin ˈnjukliəˌsaɪd ˈfɑsfərəˌleɪs dəˈfɪʃənsi/
/ˈpjʊəriːn ˈnjuːklɪəsʌɪd fɒsˈfɒrɪleɪz dɪˈfɪʃənsi/