Background Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal
recessive combined immunodeficiency. The phenotype is profound T cell deficiency with …

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 (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 …

Background Purine nucleoside phosphorylase (PNP) deficiency is a rare, autosomal
recessive, inborn error of immunity. It is characterized by progressive immune abnormalities …

Purine nucleoside phosphorylase (PNP) is an enzyme active in the purine salvage pathway.
PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe …

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

Background Purine nucleoside phosphorylase (PNP) deficiency is characterized by T–B+
NK+ combined immune deficiency, presenting with neurological deterioration and recurrent …

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 …

Two Iranian patients with purine nucleoside phosphorylase (PNP) deficiency are described
in terms of their clinical and molecular evaluations. PNP deficiency is a rare form of …