Medical

purine nucleoside phosphorylase deficiency

Also found in: Wikipedia.

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.
Mentioned in
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.
High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening
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.
[sup.1]H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism
Copyright © 2003-2025 Farlex, Inc Disclaimer
All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional.