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 and Yanick J. Crow ()
Additional contact information
Mathieu P. Rodero: Laboratory of Neurogenetics and Neuroinflammation
Alessandra Tesser: University of Trieste
Eva Bartok: University of Bonn
Gillian I. Rice: University of Manchester, Manchester Academic Health Science Centre
Erika Della Mina: Laboratory of Neurogenetics and Neuroinflammation
Marine Depp: 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: 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: Laboratory of Neurogenetics and Neuroinflammation
Fabrice Porcheray: Bioaster, Immunomonitoring Unit
Frederic Rieux-Laucat: Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine
Luis Seabra: Laboratory of Neurogenetics and Neuroinflammation
Carolina Uggenti: 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: University of Bonn
Dominique Lasne: Univ. Paris-Sud, Université Paris-Saclay
Annalisa Marcuzzi: 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: Univ. Paris-Sud, Université Paris-Saclay
Serena Pastore: Institute for Maternal and Child Health-IRCCS “Burlo Garofolo”- Trieste
Capucine Picard: Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
Paolo Picco: Unita’ Operativa Pediatria 2, Istituto Giannina Gaslini
Elisa Piscianz: 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: University of Trieste
Andrea Taddio: 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: University of Bonn
Winfried Barchet: 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: Laboratory of Neurogenetics and Neuroinflammation

Nature Communications, 2017, vol. 8, issue 1, 1-15

Abstract: Abstract 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, liver fibrosis, deforming arthropathy and increased anti-DNA antibodies. In both families we identify biallelic mutations in DNASE2, associated with a loss of DNase II endonuclease activity. We record increased interferon alpha protein levels using digital ELISA, enhanced interferon signaling by RNA-Seq analysis and constitutive upregulation of phosphorylated STAT1 and STAT3 in patient lymphocytes and monocytes. A hematological disease transcriptomic signature and increased numbers of erythroblasts are recorded in patient peripheral blood, suggesting that interferon might have a particular effect on hematopoiesis. These data define a type I interferonopathy due to DNase II deficiency in humans.

Date: 2017
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DOI: 10.1038/s41467-017-01932-3

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