Discovery of single-gene inborn errors of immunity by next generation sequencing
Identifieur interne : 002B65 ( Main/Exploration ); précédent : 002B64; suivant : 002B66Discovery 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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sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation wicri:level="1"><nlm:aff id="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Howard Hughes Medical Institute, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Howard Hughes Medical Institute</wicri:regionArea></affiliation><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></author></analytic><series><title level="j">Current opinion in immunology</title><idno type="ISSN">0952-7915</idno><idno type="eISSN">1879-0372</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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></div></front></TEI><affiliations><list><country><li>États-Unis</li></country></list><tree><country name="États-Unis"><noRegion><name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name></noRegion><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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