Purpose Purine nucleoside phosphorylase (PNP) is a known yet rare cause of combined
immunodeficiency with a heterogeneous clinical presentation. We aim to add to the …

Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome
characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity …

Purine nucleoside phosphorylase (PNP) deficiency, a rare autosomal recessive metabolic
disease causes combined immunodeficiency and developmental delay, hypotonia, and …

Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency
disorder presenting with clinically recurrent infections, failure to thrive, various neurological …

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

We report two siblings with purine nucleoside phosphorylase deficiency revealed by
isolated spastic paraplegia, whereas symptoms of immune deficiency did not become …

Purine nucleoside phosphorylase (PNP) deficiency results in an autosomal recessive
immunodeficiency disease characterized by initial involvement of cellular immunity and …

A 10-month-old girl with a history of recurrent candidiasis, developmental delay, and a
fulminant varicella infection is described. The diagnosis of purine nucleoside phosphorylase …

Background Purine nucleoside phosphorylase (PNP) deficiency accounts for about 4% of
severe combined immunodeficiency diseases. PNP deficiency is a variable disease with …

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