Lymphocyte Dysfunctions Associated with Enzyme Defects

  • B. J. M. Zegers
  • L. J. M. Spaapen
  • W. Kuis
  • J. J. Roord
  • G. T. Rijkers
  • J. W. Stoop


Nowadays three heritable molecular defects have been recognized as the primary cause of the associated immune deficiency syndrome. Adenosine deaminase (ADA) deficiency usually is associated with Severe Combined Immunodeficiency (SCID), purine nucleoside phosphorylase (PNP) deficiency is associated with cellular immune deficiency and absence of transcobalamine II (TC II) is associated with agammaglobulinemia (as well as with defects in the cells of the erythropoietic and myelopoietic cell lineage) (1). These causal associations imply the involvement of purine (and pyrimidine) metabolism and of cobalamine in the development and function of the lymphoid system (2). A low activity of another enzyme of the purine metabolic pathway, i.e. ecto-5’-nucleotidase (ecto-5’-NT) has been found in the lymphocytes of patients with hypogammaglobulinemia (3). Meanwhile lymphocytic ecto-5’-NT has been shown to be a marker of the maturation stage of the lymphocytes and low lymphocyte ecto-5’-NT activity in hypogammaglobulinemia may reflect a maturation arrest of the lymphocytes in these patients (2,3). More recently an as yet unexplained association of lymphocytic ecto-5’-NT deficiency with the syndrome of Omenn and concurrent combined immune deficiency has been reported (4).


Severe Combine Immunodeficiency Purine Nucleoside Phosphorylase Enzyme Defect Plaque Form Cell Bony Abnormality 


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Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • B. J. M. Zegers
    • 1
  • L. J. M. Spaapen
    • 1
  • W. Kuis
    • 1
  • J. J. Roord
    • 1
  • G. T. Rijkers
    • 1
  • J. W. Stoop
    • 1
  1. 1.University Children’s HospitalUtrechtThe Netherlands

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