title: Purine nucleoside phosphorylase (PNP) deficiency leading to accumulation of lymphocytes in S-phase.
abstract: Freshly isolated mononuclear cells of a patient with purine nucleoside phosphorylase (PNP) deficiency contained 7-11% cells in S-phase. During treatment with deoxycytidine and tetrahydrouridine these cells disappeared from peripheral circulation, indicating that the in vivo accumulation of S-phase cells is caused by a shortage in deoxycytidine triphosphate. In vitro it was not possible to cause a blockade in S-phase by culturing normal or PNP-deficient lymphocytes in the presence of deoxyguanosine.
authors.affiliation: University Hospital for Children and Youth, Utrecht, The Netherlands.
authors.forename: G T
authors.initials: GT
authors.lastname: Rijkers
authors.forename: B J
authors.initials: BJ
authors.lastname: Zegers
authors.forename: L J
authors.initials: LJ
authors.lastname: Spaapen
authors.forename: D H
authors.initials: DH
authors.lastname: Rutgers
authors.forename: J J
authors.initials: JJ
authors.lastname: Roord
authors.forename: W
authors.initials: W
authors.lastname: Kuis
authors.forename: J W
authors.initials: JW
authors.lastname: Stoop
mesh_terms: D003845:Deoxycytosine Nucleotides / Q000172:deficiency; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D007958:Leukocyte Count; D007963:Leukocytes, Mononuclear / Q000201:enzymology / Q000473:pathology*; D008231:Lymphopenia / Q000209:etiology; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D016196:S Phase
chemical_list: D003845:Deoxycytosine Nucleotides; C024107:2'-deoxycytidine 5'-triphosphate; D011683:Purine-Nucleoside Phosphorylase