purine nucleoside phosphorylase deficiency


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purine nucleoside phosphorylase deficiency

An autosomal co-dominant condition caused by defective purine metabolism and accumulation of deoxyGTP, resulting in immune dysfunction by inhibiting ribonucleotide reductase, and blocking cell division, causing predominantly T-cell immune dysfunction Clinical Recurring opportunistic infections of lungs, skin, GU tract, autoimmune hemolytic anemia, BM hypoplasia Lab ↓ T cells, ↑ urine/serum uric acid, ↑ inosine, ↑ guanosine. Cf Adenosine deaminase deficiency.
References in periodicals archive ?
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.
Absence of orotic aciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency.