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Basic Molecular Defect in ADA SCID

  • Elly Herbschleb-Voogt
  • Jan-Willem Scholten
  • Jaak M. Vossen
  • Peter L. Pearson
  • P. Meera Khan
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

Severe deficiency of adenosine deaminase (ADA) is known to be associated with an autosomal recessive form of severe combined immunodeficiency disease (SCID) in man1. Different theories have been proposed to explain the basic defect in ADA¯SCID. They include: a mutation in the structural gene for ADA or chromosome 201–3, a mutation in a gene regulating5 the expression of ADA4, the occurrence of an ADA specific inhibitor and a defect in the post-translational modification of ADA6, implying a defect in the adenosine deaminase complexing protein (ADCP) molecule, whose structural gene is on human chromosome 2, or in its complex formation with ADA7,8.

Keywords

Adenosine Deaminase Basic Defect Somatic Cell Hybrid Autosomal Recess 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.

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Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • Elly Herbschleb-Voogt
    • 1
  • Jan-Willem Scholten
    • 1
  • Jaak M. Vossen
    • 2
  • Peter L. Pearson
    • 2
  • P. Meera Khan
    • 1
  1. 1.Department of Human GeneticsState University LeidenLeidenThe Netherlands
  2. 2.Department of PediatricsState University LeidenThe Netherlands

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