Advertisement

Clinico-Biochemical and Molecular Studies of Purine Nucleoside Phosphorylase Deficiency

  • Takeshi Sakiyama
  • Munenori Iwase
  • Kenichi Horinouchi
  • Akira Akatsuka
  • Yasuyoshi Yoshida
  • Takanobu Kikuchi
  • Hiroyuki Shimatake
  • Teruo Kitagawa
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)

Abstract

Primary immunodeficiency states due to congenital and/or heritable enzyme defects were first recognized in a report of two patients wtih severe combined immunodeficiency disease and virtually complete absence of erythro-cyte adenosine deaminase (ADA), and secondly in a report of a girl with purine nucleoside phosphorylase (PNP) deficiency, accompanied with a defect in cellular immunity but with apparently normal humoral immunity, by Giblett and her collaborators 1, 2. Both ADA and PNP deficiency manifest recurrent and persistent infections, usually fatal without treatment, however the prevalence of PNP deficiency is less than that of ADA. Although several cases of ADA deficiency have been reported in Japan, this seems to be the only PNP deficiency case ever reported here.

Keywords

Serum Uric Acid Adenosine Deaminase Severe Combine Immunodeficiency Purine Nucleoside Phosphorylase Severe Combine Immunodeficiency Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Reference

  1. 1.
    E. R. Giblett, J. E. Anderson, F. Cohen, B. Pollara and H. J. Meuwissen, Adenosine deaminase deficiency in two patients with severely impaired cellular immunity, Lancet 2: 1067 (1972).PubMedCrossRefGoogle Scholar
  2. 2.
    E. R. Giblett, A. J. Ammann, D. W. Wara, R. Sandman and L. K. Diamond, Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal β-cell immunity, Lancet 1: 1010 (1975).PubMedCrossRefGoogle Scholar
  3. 3.
    Y. Yoshida, C. Watanabe, M. Matsuura, Y. Kikkawa, M. Owada and T. Kitagawa, Aclinicalreporton the first case of purine nucleoside phosphorylse deficiency in Japan, Acta Paediatr. Japn. (in Japanese) 90: 2497 (1986).Google Scholar
  4. 4.
    O. H. Lovry, N. J. Rosenbrogh, A. L. Farr and R. J. Randall, Protein measurement with the Folin phenol reagent, J. Biol. Chem. 193: 265 (1951).Google Scholar
  5. 5.
    H. M. Kalckar, Differential spectrophotometry of purine compounds by means of specific enzymes. I. Determination of hydroxypurine compounds, J. Biol. Chem. 167: 429 (1947).PubMedGoogle Scholar
  6. 6.
    R. P. Agarwal and R. E. Jr. Parks, Purine nucleoside phosphorylase from human erythrocytes, N. Crystallization and some properties, J. Biol. Chem. 244: 644 (1969).PubMedGoogle Scholar
  7. 7.
    H. Towbin, T. Staehalin and J. Gordon, Electrophretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedures and some applications, Proc. Natl. Acad. 76: 4350 (1979).CrossRefGoogle Scholar
  8. 8.
    J. M. Chirgwin, A. E. Przybyla, R. J. Macdonald and W. J. Rutter, Isolation of biologically active rebonucleic acid from sources enriched in ribonuclease, Biochemistry 18: 5294 (1979).PubMedCrossRefGoogle Scholar
  9. 9.
    D. Werner, Y. Chemla and M. Herzberg, Isolation of poly(A)+RNA by paper affinity chromatography, Analytical Biochemistry 141: 329 (1984).PubMedCrossRefGoogle Scholar
  10. 10.
    H. R. Pelham and R. J. Jackson, An efficient mRNA-dependent translation system from reticulocyte lysates, Eur. J. Biochem. 67: 247 (1976).PubMedCrossRefGoogle Scholar
  11. 11.
    B. Perbal: “A practical guide to molecular clonin” 2nd Ed, John Wiley & Sons, New York (1988).Google Scholar
  12. 12.
    N. M. Kredich and M. S. Hershfield, Immunodeficiency diswases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency, in “The Metabolic Basis of Inherited Disease” 5th ed. Stanbury J. B. et al, eds., McGraw Hill, New York (1983).Google Scholar
  13. 13.
    G. S. Adrian, D. A. Wiginton, and J. J. Hutton, Characterization of normal and mutant adenosine deaminase messenger RNAs by translation and hybridization to a cDNA probe. Mol. Cell. Biol. 4, 1712 (1984)PubMedGoogle Scholar
  14. 14.
    D. Valerio, B. M. Dekker, M. G. Duyvesteyn, L. van der Voorn, T. M. Berkvens, H. van ormondt, and A. J. van der Eb. One adevosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity. EMBO J. 5, 113 (1986)PubMedGoogle Scholar
  15. 15.
    S. R. Williams, V. Gekeler, R. S. McIvor and D. W. Jr. Martin, A human purine nucleoside phosphorylase deficiency caused by a single base change, J. Biol. Chem. 262: 2322 (1987).Google Scholar
  16. 16.
    L. J. Gudas, V. I. Zannis, S. M. Clift, A. J. Ammann, G. E. J. Staal, and D. W. Jr. Martin. Characterization of mutant subunits of human purine nucleoside phosphorylase. J. Biol. Chem. 253, 8916 (1978)PubMedGoogle Scholar
  17. 17.
    K. B. Mullis and F. A. Faloona, Specific synthesis of DNA in vitro via a polymerase catalysed chain reaction, in “Methods Enzymol” vol 155 R. Wu. ed. Academic Press Inc., San Diego (1987)Google Scholar

Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • Takeshi Sakiyama
    • 1
  • Munenori Iwase
    • 1
  • Kenichi Horinouchi
    • 1
  • Akira Akatsuka
    • 1
  • Yasuyoshi Yoshida
    • 1
  • Takanobu Kikuchi
    • 2
  • Hiroyuki Shimatake
    • 2
  • Teruo Kitagawa
    • 1
  1. 1.Department of PediatricsNihon University School of MedicineKanda, TokyoJapan
  2. 2.Department of Molecular BiologyToho University School of MedicineOhmori, TokyoJapan

Personalised recommendations