An abnormal form of purine nucleoside phosphorylase in a family with a child with severe defective T-cell-and normal B-cell immunity

Clinica Chimica Acta; International Journal of Clinical Chemistry
L H van HeukelomB J Zegers

Abstract

1. Purine nucleoside phosphorylase and adenosine deaminase (ADA) were studied in normal red blood cells and lymphocytes and in the cells of a family with a child with a defective T-cell-and normal B-cell immunity. 2. In the propositus no purine nucleoside phosphorylase (NP) activity could be detected in her red cells and lymphocytes, while the ADA activity was somewhat increased. The NP activities of the father, mother and brother of the propositus are in the heterozygote range. The decreased activity of NP was not only found for the substrate inosine but also when guanosine or xanthosine were used as substrate. The mode of inheritance is autosomal recessive. 3. With starch gel electrophoresis no NP activity could be detected in the patient's haemolysate. The electrophoretic patterns of NP from the father, mother and brother of the patient seem to be the same as for normal NP with six bands of NP activity. 4. The nucleoside phosphorylases of the father, mother and brother of the patient were characterized by an increased KM for the substrate inosine, normal pH optimum and a decreased heat stability.

References

Oct 1, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·L H van HeukelomB J Zegers
Mar 27, 1976·Lancet
Jan 1, 1976·Proceedings of the National Academy of Sciences of the United States of America·P P TrottaM E Balis
May 1, 1971·Annals of Human Genetics·Y H EdwardsH Harris

Citations

Oct 13, 1978·Blut·H J Meuwissen, B Pollara
Nov 1, 1978·The Histochemical Journal·M Borgers, F Thone
Oct 1, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·L H van HeukelomG E Staal
Oct 1, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·L H van HeukelomB J Zegers
Feb 1, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·L H Siegenbeek van HeukelomS K Wadman
Jul 15, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·W J Tax, J H Veerkamp
Jan 1, 1981·The International Journal of Biochemistry·G J PetersJ H Veerkamp
Jan 1, 1977·Journal of Immunological Methods·M BorgersG Geuens
Mar 24, 1977·The New England Journal of Medicine·J W StoopR E Ballieux
Jul 25, 1984·Nucleic Acids Research·S R WilliamsD W Martin
Aug 1, 1977·Cellular Immunology·R Hirschhorn, E Sela
Jan 1, 1983·Leukemia Research·J P van Laarhoven, C H de Bruyn
Feb 27, 2013·Chemistry & Biology·Javier SuarezV L Schramm
May 24, 2005·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Stacey L BergChildren's Oncology Group

Related Concepts

Adenosine Deaminase
B-Lymphocytes
Drug Stability
Erythrocytes
Hot Temperature
Genetic Carriers
Hydrogen-Ion Concentration
Immunologic Deficiency Syndromes
Nucleoside Deaminases
Pentosyltransferase

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