Discovery of single-gene inborn errors of immunity by next generation sequencing
Identifieur interne : 006717 ( Ncbi/Checkpoint ); précédent : 006716; suivant : 006718Discovery of single-gene inborn errors of immunity by next generation sequencing
Auteurs : Mary Ellen Conley [États-Unis] ; Jean-Laurent Casanova [États-Unis]Source :
- Current opinion in immunology [ 0952-7915 ] ; 2014.
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
Url:
DOI: 10.1016/j.coi.2014.05.004
PubMed: 24886697
PubMed Central: 4198453
Affiliations:
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PMC:4198453Le document en format XML
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<front><div type="abstract" xml:lang="en"><p id="P1">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 <italic>de novo</italic>
mutations in disorders with a severe phenotype has been unmasked.</p>
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