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

The authors report a case of purine nucleoside phosphorylase (PNP) deficiency for the first
time from India. The case presented with recurrent severe infections, developmental delays …

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

BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is an autosomal
recessive disease in which affected children present with recurrent infection and may …

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 (PNP) deficiency results in severe immune dysfunction
and early death from infections. Lymphopenia, reduced serum uric acid, and abnormal PNP …

Inherited deficiencies in purine metabolism can be associated with immunologic
abnormalities. We report the 5th family deficient in PNP and cellular immunity. The proband …

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

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive disease,
which presents clinically as severe combined immunodeficiency (SCID). We report here two …

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