Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.

Journal Article (Journal Article;Review)

Adenosine deaminase (ADA) deficiency was the first known cause of primary immunodeficiency. Over the past 25 years the basis for immune deficiency has largely been established. Now it appears that ADA deficiency may also cause hepatic toxicity, raising new questions about its pathogenesis. The ADA gene has been sequenced and the ADA three-dimensional structure solved. The relationship between genotype and phenotype is being analysed, and ADA deficiency has become a focus for novel approaches to enzyme replacement and gene therapy.

Full Text

Duke Authors

Cited Authors

  • Hershfield, MS; Arredondo-Vega, FX; Santisteban, I

Published Date

  • June 1997

Published In

Volume / Issue

  • 20 / 2

Start / End Page

  • 179 - 185

PubMed ID

  • 9211190

International Standard Serial Number (ISSN)

  • 0141-8955

Digital Object Identifier (DOI)

  • 10.1023/a:1005300621350


  • eng

Conference Location

  • United States