Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders
responsible for severe dysfunctions of the immune system. These diseases are life …

Neuronal activity creates an intense energy demand that must be met by rapid metabolic
responses. To investigate metabolic adaptations in the neuron-enriched dentate granule cell …

Severe combined immunodeficiencies (SCIDs) represent a group of distinct congenital
disorders affecting either cell-mediated or humoral immunity, which lead invariably to severe …

Purine nucleoside phosphorylase (PNPase) deficiency is an autosomal recessive disorder
affecting purine degradation and salvage pathways. Clinically, patients typically present with …

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 …

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 an enzyme active in the purine salvage pathway.
PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe …

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 …