Purine nucleoside phosphorylase (PNP) deficiency leading to accumulation of lymphocytes in S-phase.
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.
Rijkers
G T
GT
University Hospital for Children and Youth, Utrecht, The Netherlands.
Zegers
B J
BJ
Spaapen
L J
LJ
Rutgers
D H
DH
Roord
J J
JJ
Kuis
W
W
Stoop
J W
JW
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
D003845:Deoxycytosine Nucleotides; C024107:2'-deoxycytidine 5'-triphosphate; D011683:Purine-Nucleoside Phosphorylase