Purine nucleoside phosphorylase deficiency is a rare immunodeficiency syndrome
characterized by recurrent infections, neurological dysfunction, and autoimmunity. Early …

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

PNP deficiency is a rare combined immunodeficiency with autosomal recessive mode of
inheritance. The immunodeficiency is progressive with normal immune functions at birth, but …

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) is a key enzyme in the purine salvage pathway.
PNP deficiency, caused by the autosomal recessive mutations in the PNP gene, can lead to …

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

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 …

A 5-year-old boy with spastic quadriplegia, T cell immunodeficiency, hypouricemia and
immune cytopenias from age 8 months, was found to have purine nucleoside phosphorylase …

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

PNP deficiency is an autosomal recessive metabolic disorder characterized by severe
combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of …