Discovery of single-gene inborn errors of immunity by next generation sequencing
Identifieur interne : 003858 ( Pmc/Curation ); précédent : 003857; suivant : 003859Discovery 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
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Jean-Laurent Casanova<affiliation><nlm:aff id="A3">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Paris Descartes University and INSERM, Imagine Institute, Necker Hospital for Sick Children, Paris, France, EU</nlm:aff>
<wicri:noCountry code="subfield">EU</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A4">Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France, EU</nlm:aff>
<wicri:noCountry code="subfield">EU</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A4">Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France, EU</nlm:aff>
<wicri:noCountry code="subfield">EU</wicri:noCountry>
</affiliation>
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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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<contrib-group><contrib contrib-type="author"><name><surname>Conley</surname>
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<xref ref-type="aff" rid="A1">1</xref>
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<aff id="A1"><label>1</label>
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA</aff>
<aff id="A2"><label>2</label>
Howard Hughes Medical Institute, USA</aff>
<aff id="A3"><label>3</label>
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Paris Descartes University and INSERM, Imagine Institute, Necker Hospital for Sick Children, Paris, France, EU</aff>
<aff id="A4"><label>4</label>
Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France, EU</aff>
<author-notes><corresp id="cor1"><label>§</label>
Correspondence (<email>mconley@rockefeller.edu</email>
)</corresp>
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<pub-date pub-type="nihms-submitted"><day>10</day>
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<month>10</month>
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<volume>0</volume>
<fpage>17</fpage>
<lpage>23</lpage>
<pmc-comment>elocation-id from pubmed: 10.1016/j.coi.2014.05.004</pmc-comment>
<permissions><copyright-statement>© 2014 Elsevier Ltd. All rights reserved.</copyright-statement>
<copyright-year>2014</copyright-year>
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<abstract><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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