Nature Communications (Dec 2017)
Type I interferon-mediated autoinflammation due to DNase II deficiency
- 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
Affiliations
- Mathieu P. Rodero
- INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation
- Alessandra Tesser
- Department of Medicine, Surgery, and Health Sciences, University of Trieste
- Eva Bartok
- Institute for Clinical Chemistry and Clinical Pharmacology, University of Bonn
- Gillian I. Rice
- Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre
- Erika Della Mina
- INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation
- Marine Depp
- INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation
- Benoit Beitz
- Bioaster, Immunomonitoring Unit
- Vincent Bondet
- Immunobiology of Dendritic Cells, Institut Pasteur
- Nicolas Cagnard
- Plateforme Bio-informatique, Université Paris Descartes-Structure, Fédérative de Recherche Necker, INSERM US24/CNRS, UMS 3633
- Darragh Duffy
- Immunobiology of Dendritic Cells, Institut Pasteur
- Michael Dussiot
- INSERM UMR 1163, CNRS ERL 8254, Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutical Implications, Imagine Institute, Université Paris Descartes, Sorbonne Paris-Cité et Assistance publique-Hôpitaux de Paris, Hôpital Necker, Paris, France, Laboratory of Excellence GR-ex
- Marie-Louise Frémond
- INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation
- Marco Gattorno
- Unita’ Operativa Pediatria 2, Istituto Giannina Gaslini
- Flavia Guillem
- INSERM UMR 1163, CNRS ERL 8254, Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutical Implications, Imagine Institute, Université Paris Descartes, Sorbonne Paris-Cité et Assistance publique-Hôpitaux de Paris, Hôpital Necker, Paris, France, Laboratory of Excellence GR-ex
- Naoki Kitabayashi
- INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation
- Fabrice Porcheray
- Bioaster, Immunomonitoring Unit
- Frederic Rieux-Laucat
- Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine
- Luis Seabra
- INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation
- Carolina Uggenti
- INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation
- Stefano Volpi
- Unita’ Operativa Pediatria 2, Istituto Giannina Gaslini
- Leo A H. Zeef
- Bioinformatics Core Facility, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester
- Marie-Alexandra Alyanakian
- Laboratoire d’Immunologie Biologique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Jacques Beltrand
- Service d’endocrinologie, Gynécologie et Diabétologie Pédiatriques, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Anna Monica Bianco
- Institute for Maternal and Child Health-IRCCS “Burlo Garofolo”- Trieste
- Nathalie Boddaert
- Pediatric Radiology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Chantal Brouzes
- Department of Biological Haematology, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Sophie Candon
- Laboratoire d’Immunologie Biologique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Roberta Caorsi
- Unita’ Operativa Pediatria 2, Istituto Giannina Gaslini
- Marina Charbit
- Pediatric Nephrology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Monique Fabre
- Pathology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Flavio Faletra
- Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health-IRCCS “Burlo Garofolo”
- Muriel Girard
- INSERM UMR1163, Imagine Institute, Paris Descartes University
- Annie Harroche
- Service d’hématologie-Centre de Traitement de l’Hémophilie, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Evelyn Hartmann
- Institute for Clinical Chemistry and Clinical Pharmacology, University of Bonn
- Dominique Lasne
- INSERM UMR_S1176, Univ. Paris-Sud, Université Paris-Saclay
- Annalisa Marcuzzi
- Department of Medicine, Surgery, and Health Sciences, University of Trieste
- Bénédicte Neven
- Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine
- Patrick Nitschke
- Plateforme Bio-informatique, Université Paris Descartes-Structure, Fédérative de Recherche Necker, INSERM US24/CNRS, UMS 3633
- Tiffany Pascreau
- INSERM UMR_S1176, Univ. Paris-Sud, Université Paris-Saclay
- Serena Pastore
- Institute for Maternal and Child Health-IRCCS “Burlo Garofolo”- Trieste
- Capucine Picard
- Pediatric Immunology-Hematology and Rheumatology Unit, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Paolo Picco
- Unita’ Operativa Pediatria 2, Istituto Giannina Gaslini
- Elisa Piscianz
- Department of Medicine, Surgery, and Health Sciences, University of Trieste
- Michel Polak
- Service d’endocrinologie, Gynécologie et Diabétologie Pédiatriques, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Pierre Quartier
- Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine
- Marion Rabant
- Pathology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
- Gabriele Stocco
- Department of Life Sciences, University of Trieste
- Andrea Taddio
- Department of Medicine, Surgery, and Health Sciences, University of Trieste
- Florence Uettwiller
- Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine
- Erica Valencic
- Institute for Maternal and Child Health-IRCCS “Burlo Garofolo”- Trieste
- Diego Vozzi
- Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health-IRCCS “Burlo Garofolo”
- Gunther Hartmann
- Institute for Clinical Chemistry and Clinical Pharmacology, University of Bonn
- Winfried Barchet
- Institute for Clinical Chemistry and Clinical Pharmacology, University of Bonn
- Olivier Hermine
- INSERM UMR 1163, CNRS ERL 8254, Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutical Implications, Imagine Institute, Université Paris Descartes, Sorbonne Paris-Cité et Assistance publique-Hôpitaux de Paris, Hôpital Necker, Paris, France, Laboratory of Excellence GR-ex
- Brigitte Bader-Meunier
- Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM UMR 1163
- Alberto Tommasini
- Institute for Maternal and Child Health-IRCCS “Burlo Garofolo”- Trieste
- Yanick J. Crow
- INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation
- DOI
- https://doi.org/10.1038/s41467-017-01932-3
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 15
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.
