Blar i Bergen Open Research Archive på forfatter "Meyts, Isabelle"

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    • Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes 

      Oftedal, Bergithe Eikeland; Assing, Kristian; Baris, Safa; Safgren, Stephanie L.; Johansen, Isik S.; Jakobsen, Marianne Antonius; Babovic-Vuksanovic, Dusica; Agre, Katherine; Klee, Eric W.; Majcic, Emina; Ferré, Elise M.N.; Schmitt, Monica M.; DiMaggio, Tom; Rosen, Lindsey B.; Rahman, Muhammad; Chrysis, Dionisios; Giannakopoulos, Aristeidis; Garcia, Maria Tallon; González-Granado, Luis Ignacio; Stanley, Katherine; Galant-Swafford, Jessica; Suwannarat, Pim; Meyts, Isabelle; Lionakis, Michail S.; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2023)
      Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene. More ...

    • Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency 

      Campbell, Tessa Mollie; Liu, Zhiyong; Zhang, Qian; Moncada-Velez, Marcela; Covill, Laura E.; Zhang, Peng; Darazam, Ilad Alavi; Bastard, Paul; Bizien, Lucy; Bucciol, Giorgia; Enoksson, Sara Lind; Jouanguy, Emmanuelle; Karabela, Şemsi Nur; Khan, Taushif; Kendir-Demirkol, Yasemin; Arias, Andres Augusto; Mansouri, Davood; Marits, Per; Marr, Nico; Migeotte, Isabelle; Moens, Leen; Ozcelik, Tayfun; Pellier, Isabelle; Sendel, Anton; Senoglu, Sevtap; Shahrooei, Mohammad; Edvard Smith, Smith; Vandernoot, Isabelle; Willekens, Karen; Yasar, Kadriye Kart; Bergman, Peter; Abel, Laurent; Cobat, Aurélie; Casanova, Jean-Laurent; Meyts, Isabelle; Bryceson, Yenan (Journal article; Peer reviewed, 2022)
      Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients’ fibroblasts and plasmacytoid dendritic cells produced no detectable ...