Format

Send to

Choose Destination
See comment in PubMed Commons below
Curr Opin Immunol. 2014 Oct;30:17-23. doi: 10.1016/j.coi.2014.05.004. Epub 2014 Jun 2.

Discovery of single-gene inborn errors of immunity by next generation sequencing.

Author information

1
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. Electronic address: mconley@rockefeller.edu.
2
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Howard Hughes Medical Institute, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Paris Descartes University and INSERM, Imagine Institute, Necker Hospital for Sick Children, Paris, France; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.

Abstract

Many patients with clinical and laboratory evidence of primary immunodeficiency do not have a gene specific diagnosis. The use of next generation sequencing, particularly whole exome sequencing, has given us an extraordinarily powerful tool to identify the disease-causing genes in some of these patients. At least 34 new gene defects have been identified in the last 4 years. These findings document the striking heterogeneity of the phenotype in patients with mutations in the same gene. In some cases this can be attributed to loss-of-function mutations in some patients, but gain-of-function mutations in others. In addition, the surprisingly high frequency of autosomal dominant immunodeficiencies with variable penetrance, and de novo mutations in disorders with a severe phenotype has been unmasked.

PMID:
24886697
PMCID:
PMC4198453
DOI:
10.1016/j.coi.2014.05.004
[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 Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center