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

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 an autosomal recessive metabolic
disorder characterized by severe combined immunodeficiency and by complex neurologic …

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

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 …

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

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic
disorder that results in combined immunodeficiency, neurologic dysfunction and …

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 …

Introduction: Complete or near complete absence of the purine nucleoside phosphorylase
(PNP) enzyme causes a profound T cell immunodeficiency and neurological abnormalities …