Now showing items 1-1 of 1

    • Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency 

      Boisson, Bertrand; Laplantine, Emmanuel; Prando, Carolina; Giliani, Silvia; Israelsson, Elisabeth; Xu, Zhaohui; Abhyankar, Avinash; Israël, Laura; Trevejo-Nunez, Giraldina; Bogunovic, Dusan; Cepika, Alma-Martina; MacDuff, Donna; Chrabieh, Maya; Hubeau, Marjorie; Bajolle, Fanny; Debré, Marianne; Mazzolari, Evelina; Vairo, Donatella; Agou, Fabrice; Virgin, Herbert W.; Bossuyt, Xavier; Rambaud, Caroline; Facchetti, Fabio; Bonnet, Damien; Quartier, Pierre; Fournet, Jean-Christophe; Pascual, Virginia; Chaussabel, Damien; Notarangelo, Luigi D.; Puel, Anne; Israël, Alain; Casanova, Jean-Laurent; Picard, Capucine (2012)
      We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic auto-inflammation, invasive bacterial infections and muscular amylopectinosis. Patients from two ...