title: The importance of adenosine deaminase for lymphocyte development and function.
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.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Texas Health Science Center at Houston, 77030, USA.
authors.forename: M B
authors.initials: MB
authors.lastname: Aldrich
authors.forename: M R
authors.initials: MR
authors.lastname: Blackburn
authors.forename: R E
authors.initials: RE
authors.lastname: Kellems
mesh_terms: D000241:Adenosine / Q000378:metabolism; D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism* / Q000494:pharmacology; D000818:Animals; D003839:Deoxyadenosines / Q000378:metabolism; D004195:Disease Models, Animal; D006801:Humans; D008214:Lymphocytes / Q000187:drug effects / Q000201:enzymology* / Q000276:immunology* / Q000378:metabolism; D051379:Mice; D016511:Severe Combined Immunodeficiency / Q000201:enzymology* / Q000276:immunology* / Q000503:physiopathology / Q000628:therapy
chemical_list: D003839:Deoxyadenosines; D000243:Adenosine Deaminase; D000241:Adenosine