Purine nucleoside phosphorylase deficiency is a rare autosomal recessive
immunodeficiency disease. The characteristic features of the disease include severe T cell …

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive disease,
which presents clinically as severe combined immunodeficiency (SCID). We report here two …

Deficiency of the purine salvage pathway enzyme purine nucleoside phosphorylase causes
a combined immunodeficiency and neurologic abnormalities and is usually fatal in …

Purine nucleoside phosphorylase (PNP) deficiency is a rare immunodeficiency disease
involving a T-lymphocyte-dysfunction that is fatal unless bone marrow transplantation is …

BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is an autosomal
recessive disease in which affected children present with recurrent infection and may …

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive primary
immunodeficiency disorder characterized by decreased numbers of T-cells, variable B-cell …

Purine nucleoside phosphorylase (PNP) deficiency is an inherited autosomal recessive
disorder resulting in severe combined immunodeficiency. The purpose of this study was to …

Purine nucleoside phosphorylase (PNP) is a key enzyme in the purine salvage pathway with
adenosine deaminase (ADA). Inherited deficiency of either one of two purine salvage …

The authors report a case of purine nucleoside phosphorylase (PNP) deficiency for the first
time from India. The case presented with recurrent severe infections, developmental delays …

Purine nucleoside phosphorylase (PNP) deficiency results in severe immune dysfunction
and early death from infections. Lymphopenia, reduced serum uric acid, and abnormal PNP …