1 Ocak 2021 Dergi makalesi Açık Erişim

Taft, Justin; Markson, Michael; Legarda, Diana; Patel, Roosheel; Chan, Mark; Malle, Louise; Richardson, Ashley; Gruber, Conor; Martin-Fernandez, Marta; Mancini, Grazia M. S.; van Laar, Jan A. M.; van Pelt, Philomine; Buta, Sofija; Wokke, Beatrijs H. A.; Sabli, Ira K. D.; Sancho-Shimizu, Vanessa; Chavan, Pallavi Pimpale; Schnappauf, Oskar; Khubchandani, Raju; Cuceoglu, Muserref Kasap; Cuceoglu, Muserref Kasap

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/230168</identifier>
  <creators>
    <creator>
      <creatorName>Taft, Justin</creatorName>
      <givenName>Justin</givenName>
      <familyName>Taft</familyName>
    </creator>
    <creator>
      <creatorName>Markson, Michael</creatorName>
      <givenName>Michael</givenName>
      <familyName>Markson</familyName>
    </creator>
    <creator>
      <creatorName>Legarda, Diana</creatorName>
      <givenName>Diana</givenName>
      <familyName>Legarda</familyName>
      <affiliation>Icahn Sch Med Mt Sinai, Precis Immunol Inst, New York, NY 10029 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Patel, Roosheel</creatorName>
      <givenName>Roosheel</givenName>
      <familyName>Patel</familyName>
    </creator>
    <creator>
      <creatorName>Chan, Mark</creatorName>
      <givenName>Mark</givenName>
      <familyName>Chan</familyName>
      <affiliation>Mayo Clin, Dept Immunol, Rochester, MN 55905 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Malle, Louise</creatorName>
      <givenName>Louise</givenName>
      <familyName>Malle</familyName>
    </creator>
    <creator>
      <creatorName>Richardson, Ashley</creatorName>
      <givenName>Ashley</givenName>
      <familyName>Richardson</familyName>
    </creator>
    <creator>
      <creatorName>Gruber, Conor</creatorName>
      <givenName>Conor</givenName>
      <familyName>Gruber</familyName>
    </creator>
    <creator>
      <creatorName>Martin-Fernandez, Marta</creatorName>
      <givenName>Marta</givenName>
      <familyName>Martin-Fernandez</familyName>
    </creator>
    <creator>
      <creatorName>Mancini, Grazia M. S.</creatorName>
      <givenName>Grazia M. S.</givenName>
      <familyName>Mancini</familyName>
      <affiliation>Erasmus MC, Dept Clin Genet, NL-3015 GD Rotterdam, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>van Laar, Jan A. M.</creatorName>
      <givenName>Jan A. M.</givenName>
      <familyName>van Laar</familyName>
      <affiliation>Erasmus MC, Dept Immunol, NL-3015 GD Rotterdam, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>van Pelt, Philomine</creatorName>
      <givenName>Philomine</givenName>
      <familyName>van Pelt</familyName>
      <affiliation>Erasmus MC, Dept Rheumatol, NL-3015 GD Rotterdam, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Buta, Sofija</creatorName>
      <givenName>Sofija</givenName>
      <familyName>Buta</familyName>
    </creator>
    <creator>
      <creatorName>Wokke, Beatrijs H. A.</creatorName>
      <givenName>Beatrijs H. A.</givenName>
      <familyName>Wokke</familyName>
      <affiliation>Erasmus MC, Dept Neurol, NL-3015 GD Rotterdam, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Sabli, Ira K. D.</creatorName>
      <givenName>Ira K. D.</givenName>
      <familyName>Sabli</familyName>
    </creator>
    <creator>
      <creatorName>Sancho-Shimizu, Vanessa</creatorName>
      <givenName>Vanessa</givenName>
      <familyName>Sancho-Shimizu</familyName>
    </creator>
    <creator>
      <creatorName>Chavan, Pallavi Pimpale</creatorName>
      <givenName>Pallavi Pimpale</givenName>
      <familyName>Chavan</familyName>
    </creator>
    <creator>
      <creatorName>Schnappauf, Oskar</creatorName>
      <givenName>Oskar</givenName>
      <familyName>Schnappauf</familyName>
      <affiliation>NHGRI, Inflammatory Dis Sect, Bethesda, MD 20892 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Khubchandani, Raju</creatorName>
      <givenName>Raju</givenName>
      <familyName>Khubchandani</familyName>
    </creator>
    <creator>
      <creatorName>Cuceoglu, Muserref Kasap</creatorName>
      <givenName>Muserref Kasap</givenName>
      <familyName>Cuceoglu</familyName>
      <affiliation>Hacettepe Univ, Dept Pediat Rheumatol, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Cuceoglu, Muserref Kasap</creatorName>
      <givenName>Muserref Kasap</givenName>
      <familyName>Cuceoglu</familyName>
      <affiliation>Hacettepe Univ, Dept Pediat Rheumatol, Ankara, Turkey</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Human Tbk1 Deficiency Leads To Autoinflammation Driven By Tnf-Induced Cell Death</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2021</publicationYear>
  <dates>
    <date dateType="Issued">2021-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/230168</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.cell.2021.07.026</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">TANK binding kinase 1 (TBK1) regulates IFN-I, NF-kappa B, and TNF-induced RIPK1-dependent cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal. We discovered four humans, ages 32, 26, 7, and 8 from three unrelated consanguineous families with homozygous loss-of-function mutations in TBK1. All four patients suffer from chronic and systemic autoinflammation, but not severe viral infections. We demonstrate that TBK1 loss results in hypomorphic but sufficient IFN-I induction via RIG-I/MDA5, while the system retains near intact IL-6 induction through NF-kappa B. Autoinflammation is driven by TNF-induced RCD as patient-derived fibroblasts experienced higher rates of necroptosis in vitro, and CC3 was elevated in peripheral blood ex vivo. Treatment with anti-TNF dampened the baseline circulating inflammatory profile and ameliorated the clinical condition in vivo. These findings highlight the plasticity of the IFN-I response and underscore a cardinal role for TBK1 in the regulation of RCD.</description>
  </descriptions>
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