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

Identifieur interne : 003858 ( Pmc/Curation ); précédent : 003857; suivant : 003859

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

Auteurs : Mary Ellen Conley [États-Unis] ; Jean-Laurent Casanova [États-Unis]

Source :

RBID : PMC:4198453

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.


Url:
DOI: 10.1016/j.coi.2014.05.004
PubMed: 24886697
PubMed Central: 4198453

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PMC:4198453

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Jean-Laurent Casanova
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<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>
Jean-Laurent Casanova
<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>
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St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA</aff>
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Howard Hughes Medical Institute, USA</aff>
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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>
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Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France, EU</aff>
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Correspondence (
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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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