학술논문
Type I interferon-mediated autoinflammation due to DNase II deficiency
Document Type
article
Author
Mathieu P. Rodero; Alessandra Tesser; Eva Bartok; Gillian I. Rice; Erika Della Mina; Marine Depp; Benoit Beitz; Vincent Bondet; Nicolas Cagnard; Darragh Duffy; Michael Dussiot; Marie-Louise Frémond; Marco Gattorno; Flavia Guillem; Naoki Kitabayashi; Fabrice Porcheray; Frederic Rieux-Laucat; Luis Seabra; Carolina Uggenti; Stefano Volpi; Leo A H. Zeef; Marie-Alexandra Alyanakian; Jacques Beltrand; Anna Monica Bianco; Nathalie Boddaert; Chantal Brouzes; Sophie Candon; Roberta Caorsi; Marina Charbit; Monique Fabre; Flavio Faletra; Muriel Girard; Annie Harroche; Evelyn Hartmann; Dominique Lasne; Annalisa Marcuzzi; Bénédicte Neven; Patrick Nitschke; Tiffany Pascreau; Serena Pastore; Capucine Picard; Paolo Picco; Elisa Piscianz; Michel Polak; Pierre Quartier; Marion Rabant; Gabriele Stocco; Andrea Taddio; Florence Uettwiller; Erica Valencic; Diego Vozzi; Gunther Hartmann; Winfried Barchet; Olivier Hermine; Brigitte Bader-Meunier; Alberto Tommasini; Yanick J. Crow
Source
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Subject
Language
English
ISSN
2041-1723
Abstract
Nucleic acid sensing is important to ensure that an innate immune response is only mounted against microbial nucleic acid. Here, the authors identify loss-of-function mutations in the DNASE2 gene that cause type I interferon-mediated autoinflammation due to enhanced systemic interferon signaling.