Immune function in two brothers with a deficiency of purine nucleoside phosphorylase was
evaluated in vivo and in vitro. Both patients had a history of recurrent infections and …

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

Purine-nucleoside phosphorylase (NP) deficiency is associated with severely defective
thymus-derived (T)-cell and normally functioning bone marrow-derived (B)-cell immunity. In …

The results of immunotherapy and immunopathologic studies are described in a patient with
nucleoside phosphorylase deficiency, normal B cell function, and severe absence of T cell …

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 …

Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disease accounting
for approximately 4% of patients with severe combined immunodeficiency. Thirty-three …

A 2 1/2-year-old boy presented with an illness resembling glandular fever. He was found to
have T-cell deficiency with lack of red and white cell purine nucleoside phosphorylase …

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 …

By a sensitive enzyme-linked immunosorbent assay, inactive variant nucleoside
phosphorylase (NP) protein could be quantitated in red cells and cultured skin fibroblasts …

Absence of purine nucleoside phosphorylase (NP) is associated with severe T cell immune
deficiency and normal B cell function. Patients with this enzyme defect accumulate inosine …