Format

Send to

Choose Destination
See comment in PubMed Commons below
J Clin Invest. 2005 Nov;115(11):2974-6.

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

Author information

1
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA. buckL003@mc.duke.edu

Abstract

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).

PMID:
16276411
PMCID:
PMC1265883
DOI:
10.1172/JCI26956
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for American Society for Clinical Investigation Icon for PubMed Central
    Loading ...
    Support Center