ADA Deficiency - The First Described Genetic Defect Causing PID


Book Section

© 2014 Elsevier Inc. All rights reserved. The serendipitous discovery of adenosine deaminase (ADA) deficiency in 1972 preceded by two decades the identification of gene defects in other forms of severe combined immune deficiency (SCID). During that interval, a great deal was accomplished: with knowledge of the underlying enzyme deficiency came a biochemical test for diagnosing ADA-deficient patients. The metabolic consequences of ADA deficiency were determined, the biochemical mechanisms by which ADA substrates and metabolites cause disease were defined and the close relationship of genotype to phenotype became apparent. A novel method of enzyme replacement for ADA deficiency was tested and approved, and the first in human trial of gene therapy was initiated in patients with ADA deficiency.

Full Text

Duke Authors

Cited Authors

  • Hershfield, MS; Meuwissen, HJ; Hirschhorn, R

Published Date

  • August 26, 2014

Book Title

  • Primary Immunodeficiency Disorders: A Historic and Scientific Perspective

Start / End Page

  • 255 - 266

International Standard Book Number 13 (ISBN-13)

  • 9780124071797

Digital Object Identifier (DOI)

  • 10.1016/B978-0-12-407179-7.00020-5

Citation Source

  • Scopus