Proceedings of the National Academy of Sciences · 1978 · 209 citations · 22 references
Life SciencesImmunologyMolecular BiologyClinical ImmunologyImmunopathologyImmunotoxicologyInborn Errors Of MetabolismMolecular Mechanisms Of ToxicityNucleotide MetabolismNucleotide Metabolism DisordersPrimary Immunodeficiency GeneticsT Cell BiologyAdenosine Deaminase DeficiencyAdenosine TriphosphatasesAdenosine Triphosphate MetabolismPurine CatabolismT Cell ToxicityThymic Toxicity
Deoxyadenosine at low concentrations and in the presence of an inhibitor of adenosine deaminase (adenosine aminohydrolase, EC 3.5.4.4) is markedly toxic to lymphoblast cell lines of T cell origin but does not impair growth of B cell lines. Deoxyguanosine is also more toxic for T lymphoblasts. In the presence of deoxyadenosine or deoxyguanosine, elevation of the corresponding deoxyribonucleoside triphosphate (dATP or dGTP) occurs in T cell, but not in B cell, lines. The addition of deoxycytidine or dipyridamole results in lower dATP and dGTP levels and prevents deoxyribonucleoside toxicity. These findings provide a molecular basis for the immunodeficiency observed in individuals with several inborn errors of purine metabolism.
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ADENOSINE-DEAMINASE DEFICIENCY IN TWO PATIENTS WITH SEVERELY IMPAIRED CELLULAR IMMUNITY
E.R. Giblett, JeanneE. Anderson, Flossie Cohen et al. · The Lancet · 1972 · 1.7K citations
Dennis A. Carson, Jonathan Kaye, J. Edwin Seegmiller · Proceedings of the National Academy of Sciences · 1977 · 414 citations · Full text