Encyclopedia of Life Sciences 2019
DOI: 10.1002/9780470015902.a0027873
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Adenosine Deaminase Deficiency: From the Discovery of Its Molecular Pathogenesis to Targeted Therapy

Abstract: Adenosine deaminase (ADA) is a key enzyme of the purine metabolism pathway whose gene is located on the chromosome 20 in humans. Mutations in the sequence of the ADA gene were found to cause severe combined immunodeficiency (SCID) both in humans and murine disease models. Because of the ubiquitous nature of ADA expression, ADA deficiency should be recognised as a systemic metabolic disorder that results in multiple organ pathologies. However, since the highe… Show more

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“…Genetic defects in the purine salvage enzyme ADA lead to SCID with profound depletion of T, B and NK cell lineages both in humans and mice 2,43 .…”
Section: Discussionmentioning
confidence: 99%
“…Genetic defects in the purine salvage enzyme ADA lead to SCID with profound depletion of T, B and NK cell lineages both in humans and mice 2,43 .…”
Section: Discussionmentioning
confidence: 99%