## Abstract The biochemical features of two families with purine nucleoside phosphorylase deficiency are compared. Laboratory studies and an evaluation of kinetic and physical properties of erythrocyte purine nucleoside phosphorylase give evidence that a) the degree of abnormality in uric acid and
COMMON VARIABLE IMMUNODEFICIENCY AND PURINE NUCLEOTIDASE AND NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
✍ Scribed by ØSTERGAARD, POUL AABEL ;DEDING, AAGE ;ERIKSEN, JAN ;MEJER, JOHANNES
- Book ID
- 114821429
- Publisher
- Wiley (Blackwell Publishing)
- Year
- 2009
- Weight
- 344 KB
- Volume
- 88C
- Category
- Article
- ISSN
- 0304-1328
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Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficiency. The molecular defects have been published for 4 different alleles in 3 patients. We report four new mutations including two amino acid substitutions, A 174P
## Abstract ## Background Purine nucleoside phosphorylase (PNP) deficiency causes the accumulation of toxic purine metabolites and lethal T cell immune defects, which might be corrected by expressing PNP by transplanting bone marrow (BM) cells transduced with lentiviral vectors containing the huma
Purine and pyrimidine metabolism was compared in erythrocytes from three patients from two families with purine nucleoside phosphorylase deficiency and T-cell immunodeficiency, one heterozygote subject for this enzyme deficiency, one patient with a complete deficiency of hypoxanthine-guanine phospho