Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

Journal Article (Journal Article;Review)

Adenosine deaminase (ADA) deficiency is associated with a broad clinical and mutational spectrum. Defining the relationship of genotype to phenotype among patients with different degrees of immunodeficiency has been complicated because the disease is rare, most mutations are 'private' and patients are often heteroallelic. In recent years, knowledge of ADA structure and systematic expression of mutant alleles have revealed that phenotype is strongly associated with the sum of ADA activity provided by both alleles. A scale for ranking novel ADA alleles based on expression may have utility if newborn screening for primary immunodeficiency disorders is initiated.

Full Text

Duke Authors

Cited Authors

  • Hershfield, MS

Published Date

  • October 1, 2003

Published In

Volume / Issue

  • 15 / 5

Start / End Page

  • 571 - 577

PubMed ID

  • 14499267

International Standard Serial Number (ISSN)

  • 0952-7915

Digital Object Identifier (DOI)

  • 10.1016/s0952-7915(03)00104-3


  • eng

Conference Location

  • England