Molecular basis of adenosine deaminase deficiency.

Journal Article (Journal Article;Review)

Adenosine deaminase (ADA) deficiency is an autosomal recessive disorder resulting in immunodeficiency. Since the cDNA for ADA was cloned approximately 10 years ago, investigators have determined the molecular basis for disease in many patients with ADA deficiency. Mutations that have been identified include point mutations causing amino acid substitutions, premature stop codons, RNA splicing errors, and deletion mutations. Approximately one third of patients are homozygous for their mutation; in some of these cases the parents are known to be related. One mutation, Ala329-Val, is the most common, being present in 8 of the 21 ADA-deficient SCID patients whose mutations have been reported.

Full Text

Duke Authors

Cited Authors

  • Markert, ML

Published Date

  • 1994

Published In

Volume / Issue

  • 5 / 2

Start / End Page

  • 141 - 157

PubMed ID

  • 8032366

International Standard Serial Number (ISSN)

  • 1067-795X


  • eng

Conference Location

  • Switzerland