Genetic deficiency of the purine salvage enzyme adenosine deaminase (ADA) provides the
molecular basis for approximately 40% of autosomal recessive cases of severe combined …

Four percent of human severe combined immunodeficiency cases are caused by a
deficiency of the enzyme purine nucleoside phosphorylase (PNP). In this study we …

Purine nucleoside phosphorylase deficiency in association with immunodeficiency is a
distinctive immunological disorder. A total of nine patients, in six different institutions, have …

We report the case of a 4-year-old boy with pyridoxamine 5-phosphate oxidase deficiency,
now the second reported case to develop hepatic cirrhosis. He presented with an …

We studied a 15-month-old girl who had normal T-cell and B-cell immunity at birth, after
which a gradual decrease in T-cell immunity developed. This selective cellular …

A girl with purine nucleoside phosphorylase (PNP) deficiency is described. The nature of the
motor disorder is similar to other children since found to have PNP deficiency. It is suggested …

We describe a 2 year old girl with nucleoside phosphorylase (PNP) deficiency, who had low
blood T cell numbers and T lymphocyte blastogenic response to mitogens …

BACKGROUND: Inherited or acquired defects in purine nucleoside phosphorylase (PNP)
impair purine metabolism, as well as the survival and function of T lymphocytes. However …

Purines and pyrimidines, regarded for a long time merely as building blocks for nucleic acid
synthesis and intermediates in the transfer of metabolic energy, have attracted increasing …

Immunologic and metabolic abnormalities were studied in a five year old boy with 0.07 per
cent of normal erythrocyte purine nucleoside phosphorylase activity. The clinical course is …