| 释义 |
purine nucleoside phosphorylase deficiency
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. |