The importance of adenosine deaminase for lymphocyte development and function

Biochem Biophys Res Commun. 2000 Jun 7;272(2):311-5. doi: 10.1006/bbrc.2000.2773.

Abstract

Deficiency in the enzyme adenosine deaminase (ADA) in humans manifests primarily as severe lymphopenia and immunodeficiency, resulting in death by 6 months of age, if untreated. In this review, we discuss phenotypical, biochemical, and metabolic hallmarks of the disease, and describe a mouse model in which levels of ADA can be biochemically and genetically manipulated. This model provides exciting possibilities for uncovering the mechanisms by which this purine catabolic enzyme affects lymphopoiesis.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adenosine / metabolism
  • Adenosine Deaminase / deficiency*
  • Adenosine Deaminase / genetics
  • Adenosine Deaminase / metabolism*
  • Adenosine Deaminase / pharmacology
  • Animals
  • Deoxyadenosines / metabolism
  • Disease Models, Animal
  • Humans
  • Lymphocytes / drug effects
  • Lymphocytes / enzymology*
  • Lymphocytes / immunology*
  • Lymphocytes / metabolism
  • Mice
  • Severe Combined Immunodeficiency / enzymology*
  • Severe Combined Immunodeficiency / immunology*
  • Severe Combined Immunodeficiency / physiopathology
  • Severe Combined Immunodeficiency / therapy

Substances

  • Deoxyadenosines
  • Adenosine Deaminase
  • Adenosine