Article
Type I interferon-mediated autoinflammation due to DNase II deficiency.
Nature communications - 19 Dec 2017
Rodero Mathieu P, Tesser Alessandra, Bartok Eva, Rice Gillian I, Della Mina Erika, Depp Marine, Beitz Benoit, Bondet Vincent, Cagnard Nicolas, Duffy Darragh, Dussiot Michael, Frémond Marie-Louise, Gattorno Marco, Guillem Flavia, Kitabayashi Naoki, Porcheray Fabrice, Rieux-Laucat Frederic, Seabra Luis, Uggenti Carolina, Volpi Stefano, Zeef Leo A H, Alyanakian Marie-Alexandra, Beltrand Jacques, Bianco Anna Monica, Boddaert Nathalie, Brouzes Chantal, Candon Sophie, Caorsi Roberta, Charbit Marina, Fabre Monique, Faletra Flavio, Girard Muriel, Harroche Annie, Hartmann Evelyn, Lasne Dominique, Marcuzzi Annalisa, Neven Bénédicte, Nitschke Patrick, Pascreau Tiffany, Pastore Serena, Picard Capucine, Picco Paolo, Piscianz Elisa, Polak Michel, Quartier Pierre, Rabant Marion, Stocco Gabriele, Taddio Andrea, Uettwiller Florence, Valencic Erica, Vozzi Diego, Hartmann Gunther, Barchet Winfried, Hermine Olivier, Bader-Meunier Brigitte, Tommasini Alberto, Crow Yanick J
Abstract excerpt
Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement to limit the misrepresentation of self nucleic acids as non-self and the induction of autoinflammation. By systematic screening using a panel of interferon-stimulated genes we identify two siblings and a singleton variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis,...
Read the complete abstract on PubMed