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.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
The 3 SCID infants with detectable TREC included a premature infant with high-level maternal engraftment (27 TREC), a child with purine nucleoside phosphorylase deficiency (PNP, 1.4 X [10.sup.2] TREC), a genotype of SCID typically manifested by delayed loss of T-cell production (also shown in Fig.
A new case of purine nucleoside phosphorylase deficiency: enzymological, clinical and immunological characteristics.
Absence of orotic aciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. Clin Exp Immunol 1978;34:42-5.