The ubiquitous purine nucleoside phosphorylases (PNPs) play a key role in the purine
salvage pathway, and PNP deficiency in humans leads to an impairment of T-cell function …

Inborn errors of purine metabolism exhibit broad neurological, immunological,
haematological and renal manifestations. Limited awareness of the phenotypic spectrum …

The neonatal or newborn period is the first 4 weeks of extrauterine life, whereas infancy is
the whole first year. Infants born alive before the 37th week of gestation (ie 37 weeks after …

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

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

Hematopoietic stem cell transplantation (HSCT) has emerged over the past 50 years as a
life-saving therapy for many human diseases. Most recipients of allogeneic HSCT suffer from …

Except for infants with complete DiGeorge syndrome, who have no HLA-identical donors
and who therefore need a cultured allogeneic thymic transplantation, 19 all infants and …

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 …

A 10-month-old girl with a history of recurrent candidiasis, developmental delay, and a
fulminant varicella infection is described. The diagnosis of purine nucleoside phosphorylase …

Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive metabolic
disorder characterized by severe combined immunodeficiency and by complex neurologic …