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Type I interferon-mediated autoinflammation due to DNase II deficiency

by Lasne, Dominique , Beitz, Benoit , Quartier, Pierre , Bondet, Vincent , Tommasini, Alberto , Girard, Muriel , Taddio, Andrea , Bader-Meunier, Brigitte , Hermine, Olivier , Duffy, Darragh , Caorsi, Roberta , Uggenti, Carolina , Barchet, Winfried , Candon, Sophie , Boddaert, Nathalie , Porcheray, Fabrice , Crow, Yanick J. , Harroche, Annie , Cagnard, Nicolas , Bianco, Anna Monica , Guillem, Flavia , Frémond, Marie-Louise , Zeef, Leo A H. , Polak, Michel , Stocco, Gabriele , Uettwiller, Florence , Marcuzzi, Annalisa , Valencic, Erica , Faletra, Flavio , Piscianz, Elisa , Della Mina, Erika , Kitabayashi, Naoki , Tesser, Alessandra , Alyanakian, Marie-Alexandra , Pascreau, Tiffany , Rabant, Marion , Hartmann, Evelyn , Vozzi, Diego , Pastore, Serena , Charbit, Marina , Brouzes, Chantal , Volpi, Stefano , Seabra, Luis , Beltrand, Jacques , Gattorno, Marco , Rodero, Mathieu P. , Rieux-Laucat, Frederic , Dussiot, Michael , Depp, Marine , Neven, Bénédicte , Picco, Paolo , Hartmann, Gunther , Rice, Gillian I. , Bartok, Eva , Nitschke, Patrick , Fabre, Monique , Picard, Capucine

in 631/208/248/144 / 631/250/248 / 692/699/249/2510/2511 / Adolescent / Anemia / Anti-DNA antibodies / Antibodies / Antiviral Agents - pharmacology / Child / Deformation / Deoxyribonuclease / Deoxyribonucleases - deficiency / Deoxyribonucleases - genetics / Deoxyribonucleases - immunology / Deoxyribonucleic acid / DNA / Endodeoxyribonucleases - deficiency / Endodeoxyribonucleases - genetics / Endodeoxyribonucleases - immunology / Endonuclease / Enzyme-linked immunosorbent assay / Erythroblasts / Erythroblasts - immunology / Female / Fibrosis / Gene Expression Profiling / Glomerulonephritis / Hematopoiesis / Hematopoiesis - immunology / Hereditary Autoinflammatory Diseases - blood / Hereditary Autoinflammatory Diseases - enzymology / Hereditary Autoinflammatory Diseases - genetics / Hereditary Autoinflammatory Diseases - immunology / Humanities and Social Sciences / Humans / Immunology / Interferon / Interferon-alpha - blood / Interferon-alpha - immunology / Interferon-alpha - metabolism / Life Sciences / Liver / Lymphocytes / Male / Microorganisms / Monocytes / multidisciplinary / Mutation / Neonates / Nucleic acids / Peripheral blood / Phosphorylation / Ribonucleic acid / RNA / RNA, Messenger - analysis / Science / Science (multidisciplinary) / Sequence Analysis, RNA / Signal Transduction - immunology / Signaling / Stat1 protein / STAT1 Transcription Factor - metabolism / Stat3 protein / STAT3 Transcription Factor - metabolism / Up-Regulation - drug effects / α-Interferon

2017

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Type I interferon-mediated autoinflammation due to DNase II deficiency

2017

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2017

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Journal Article

Type I interferon-mediated autoinflammation due to DNase II deficiency

Lasne, Dominique,

Beitz, Benoit,

Quartier, Pierre,

Bondet, Vincent,

Tommasini, Alberto,

Girard, Muriel,

Taddio, Andrea,

Bader-Meunier, Brigitte,

Hermine, Olivier,

Duffy, Darragh,

Caorsi, Roberta,

Uggenti, Carolina,

Barchet, Winfried,

Candon, Sophie,

Boddaert, Nathalie,

Porcheray, Fabrice,

Crow, Yanick J.,

Harroche, Annie,

Cagnard, Nicolas,

Bianco, Anna Monica,

Guillem, Flavia,

Frémond, Marie-Louise,

Zeef, Leo A H.,

Polak, Michel,

Stocco, Gabriele,

Uettwiller, Florence,

Marcuzzi, Annalisa,

Valencic, Erica,

Faletra, Flavio,

Piscianz, Elisa,

Della Mina, Erika,

Kitabayashi, Naoki,

Tesser, Alessandra,

Alyanakian, Marie-Alexandra,

Pascreau, Tiffany,

Rabant, Marion,

Hartmann, Evelyn,

Vozzi, Diego,

Pastore, Serena,

Charbit, Marina,

Brouzes, Chantal,

Volpi, Stefano,

Seabra, Luis,

Beltrand, Jacques,

Gattorno, Marco,

Rodero, Mathieu P.,

Rieux-Laucat, Frederic,

Dussiot, Michael,

Depp, Marine,

Neven, Bénédicte,

Picco, Paolo,

Hartmann, Gunther,

Rice, Gillian I.,

Bartok, Eva,

Nitschke, Patrick,

Fabre, Monique,

Picard, Capucine

2017

Overview

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. 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.

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Publisher

Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio

Subject

631/208/248/144

/ 631/250/248

/ 692/699/249/2510/2511

/ Adolescent

/ Anemia

/ Anti-DNA antibodies

/ Antibodies