Variable phenotypic expression of mutations in genes of the immune system.

Journal Article (Journal Article;Review)

Discovery of mutated genes that cause various types of primary immunodeficiencies has significantly advanced our understanding of the pathogenesis of these diseases and of the functions of normal gene products. However, it is becoming abundantly clear that the phenotypic presentation of mutations in a given gene can be quite different, depending upon the location and type of mutation but also probably upon other genetic factors and environmental influences. In this issue of the JCI, de Villartay et al. describe a third phenotype for mutations in recombination activating gene 1 (RAG1), in addition to the already known phenotypes of SCID and Omenn syndrome (see the related article beginning on page 3291).

Full Text

Duke Authors

Cited Authors

  • Buckley, RH

Published Date

  • November 2005

Published In

Volume / Issue

  • 115 / 11

Start / End Page

  • 2974 - 2976

PubMed ID

  • 16276411

Pubmed Central ID

  • PMC1265883

International Standard Serial Number (ISSN)

  • 0021-9738

Digital Object Identifier (DOI)

  • 10.1172/JCI26956


  • eng

Conference Location

  • United States