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
Language
- eng
Conference Location
- United States