Hypomorphic mutations in genes associated with severe combined immunodeficiency
(SCID) or Omenn syndrome can also cause milder immunodeficiencies. We report 10 new …

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

Purine nucleoside phosphorylase (PNP) is an important enzyme in the purine degradation
and salvage pathway. PNP deficiency results in marked T lineage lymphopenia and severe …

Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome
characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity …

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 …

Genetic metabolic purine and pyrimidine disorders were first reported in children as the
cause of kidney stones and intractable anaemia in 1954 and 1959 respectively [1]. A genetic …

Purine and pyrimidine nucleotides are essential for a vast number of biological processes
such as RNA and DNA synthesis and as a component of high-energy nucleotides, eg …

Inherited defects in purine nucleoside phosphorylase (PNP) cause severe T cell
immunodeficiency and progressive neurological dysfunction, yet little is known about the …

In further contrast to the situation in solid organ transplantation, successful marrow
engraftment until recently required HLA identity (at least for HLA class II determinants) …

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