PNP deficiency is an autosomal recessive metabolic disorder characterized by severe
combined immunodeficiency and by complex neurological symptomatology including ataxia …

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

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

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

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 …

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

Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive metabolic
disorder characterized by severe combined immunodeficiency and by complex neurologic …

Purine nucleoside phosphorylase (PNP) deficiency is an immunodeficiency disorder
characterized by recurrent infections, failure to thrive and neurologic symptomatology. While …