Purpose The etiology of 80% of patients with primary antibody deficiency (PAD), the second
most common type of human immune system disorder after human immunodeficiency virus …

Primary immunodeficiency diseases (PID) are a genetically heterogeneous group of more
than 270 disorders that affect distinct components of both humoral and cellular arms of the …

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive primary
immunodeficiency disorder characterized by decreased numbers of T-cells, variable B-cell …

Background Purine nucleoside phosphorylase (PNP) deficiency accounts for about 4% of
severe combined immunodeficiency diseases. PNP deficiency is a variable disease with …

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

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 …

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

Purine nucleoside phosphorylase deficient severe combined immunodeficiency (PNP SCID)
is one of the rare autosomal recessive primary immunodeficiency disease, and the data on …

Purine nucleoside phosphorylase deficiency is one of the severe combined
immunodeficiencies, which often clinically manifests with recurrent infections, neurologic …

Inborn errors of metabolism (IEMs) or metabolic disorders are complex conditions involving
abnormalities in biochemical and metabolic pathways necessary for healthy human …