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New Perspectives in the Diagnosis and Treatment of Adenosine Deaminase (ADA) Deficiency

  • R. J. Levinsky
  • E. G. Davies
  • H. A. Simmonds
  • D. R. Webster
  • M. Adinolfi
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

Severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADA) exhibits autosomal recessive inheritance, and may account for up to 20% of cases (1). Accumulation of intracellular toxic deoxynucleotides and/or S-adenosyl homocysteine particularly in T cells, is considered responsible for the severe lymphoid depletion and dysfunction observed in affected children (2). Unlike other forms of SCID, this variety is amenable to enzyme replacement therapy using regular fresh irradiated red blood cell transfusions as the source of enzyme. Another form of therapy suggested from in vitro studies, is the use of deoxycytidine which theoretically would act as a competitive substrate for deoxycytidine kinase, the enzyme considered responsible for the intracellular accumulation of deoxy-ATP (dATP). This study reports our experience of various treatments in three ADA deficient children.

Keywords

Enzyme Replacement Therapy Severe Combine Immunodeficiency Deoxycytidine Kinase Amniotic Epithelial Cell Thymic Hormone 
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

  • R. J. Levinsky
    • 1
  • E. G. Davies
    • 1
  • H. A. Simmonds
    • 1
  • D. R. Webster
    • 1
  • M. Adinolfi
    • 1
  1. 1.Institute of Child Health and Guy’s HospitalMedical SchoolLondonUSA

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