Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Gillian I. Rice,Gabriella Forte,Marcin Szynkiewicz,Diana Chase,Alec Aeby,Mohamed S Abdel-Hamid,Sam Ackroyd,Rebecca L. Allcock,Kathryn Bailey,Umberto Balottin,Christine Barnerias,Geneviève Bernard,Christine Bodemer,Maria P. Botella,Cristina Cereda,Kate Chandler,Lyvia Dabydeen,Russell C. Dale,Corinne De Laet,Christian de Goede,Mireia Del Toro,Laila Effat,Noemi Nunez Enamorado,Elisa Fazzi,Blanca Gener,Madli Haldre,Jean-Pierre S-M Jp Lin,John Jh Livingston,Charles Marques Lourenço,Wilson Marques,Patrick J. Oades,Pärt Peterson,Magnhild Rasmussen,Agathe Roubertie,Johanna L. Schmidt,Stavit A. Shalev,Rogelio Simon,Ronen Spiegel,Kathryn Kj Swoboda,Samia Sa Temtamy,Grace Vassallo,Catheline Vilain,Julie Vogt,Vanessa Wermenbol,William Wp Whitehouse,Doriette Soler,Ivana Olivieri,Simona Orcesi,Mona Ms Aglan,Maha S. Zaki,Ghada Gm Abdel-Salam,Adeline Vanderver,Kai Kisand,Flore Rozenberg,Pierre Lebon,Yanick J. Crow,Yanick J. Crow +56 more
TLDR
AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls, and neutralisation assays suggested that measurable antiviral activity was related toInterferon α production.Citations
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CRISPR-Cas9 Knockin Mice for Genome Editing and Cancer Modeling
Randall Jeffrey Platt,Sidi Chen,Yang Zhou,Michael Yim,Lukasz Swiech,Hannah R. Kempton,James E. Dahlman,Oren Parnas,Thomas Eisenhaure,Marko Jovanovic,Daniel B. Graham,Siddharth Jhunjhunwala,Matthias Heidenreich,Ramnik J. Xavier,Robert Langer,Daniel G. Anderson,Nir Hacohen,Aviv Regev,Guoping Feng,Phillip A. Sharp,Feng Zhang +20 more
TL;DR: In this paper, a Cre-dependent Cas9 knockin mouse was used to study the dynamics of KRAS, p53, and LKB1, the top three significantly mutated genes in lung adenocarcinoma.
Journal ArticleDOI
Aicardi–Goutières syndrome and the type I interferonopathies
Yanick J. Crow,Nicolas Manel +1 more
TL;DR: The molecular and cellular basis of the interferonopathies, their categorization, future treatment strategies and the insights they provide into normal physiology are discussed.
Journal ArticleDOI
cGAS in action: Expanding roles in immunity and inflammation
Andrea Ablasser,Zhijian J. Chen +1 more
TL;DR: The latest advances uncovering how cGAS and STING control inflammatory responses and are themselves regulated are reviewed, suggesting a major clinical impact in areas of cancer immunotherapy and vaccine development.
Journal ArticleDOI
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I. Rice,Yoandris del Toro Duany,Yoandris del Toro Duany,Emma M. Jenkinson,Gabriella M A Forte,Beverley Anderson,Giada Ariaudo,Brigitte Bader-Meunier,Eileen Baildam,Roberta Battini,Michael W. Beresford,Manuela Casarano,Mondher Chouchane,Rolando Cimaz,Abigail Collins,Nuno Cordeiro,Russell C. Dale,Joyce Davidson,Liesbeth De Waele,Isabelle Desguerre,Laurence Faivre,Elisa Fazzi,Bertrand Isidor,Lieven Lagae,Andrew Latchman,Pierre Lebon,Chumei Li,John H. Livingston,Charles Marques Lourenço,Maria Margherita Mancardi,Alice Masurel-Paulet,Iain B. McInnes,Manoj P. Menezes,Cyril Mignot,James O'Sullivan,Simona Orcesi,Paolo Picco,Enrica Riva,Robert Robinson,Diana Rodriguez,Diana Rodriguez,Elisabetta Salvatici,Christiaan Scott,Marta Szybowska,John Tolmie,Adeline Vanderver,Catherine Vanhulle,José Pedro Vieira,Kate Webb,Robyn Whitney,Simon G. Williams,Lynne A. Wolfe,Sameer M. Zuberi,Sameer M. Zuberi,Sun Hur,Sun Hur,Yanick J. Crow +56 more
TL;DR: It is demonstrated that aberrant sensing of nucleic acids can cause immune upregulation and heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state.
Journal ArticleDOI
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow,Diana Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella Forte,Hannah Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S. Abdel-Hamid,Ghada M H Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta,Catherine Albin,Stavit Allon-Shalev,Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen Baildam,Nadia Bahi-Buisson,Kathryn Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W. Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward Blair,Miriam Bloom,Alberto B. Burlina,Maria Luisa Carpanelli,Daniel R. Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate Chandler,David Chitayat,Abigail Collins,Concepcion Sierra Corcoles,Nuno Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C. Dale,Stefano D'Arrigo,Christian de Goede,Corinne De Laet,Liesbeth De Waele,Inés Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D. Ferrie,António Figueiredo,Blanca Gener,Cyril Goizet,Nirmala Rani Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D. King,Edwin P. Kirk,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming K. Lim,Jean-Pierre Lin,Tarja Linnankivi,Mark T Mackay,Daphna Marom,Charles Marques Lourenço,Shane McKee,Isabella Moroni,Jenny Morton,Marie Laure Moutard,Kevin J. Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J. Oades,Ivana Olivieri,John R. Østergaard,Belén Pérez-Dueñas,Julie S. Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici,Karin Segers,Gyanranjan P. Sinha,Doriette Soler,Ronen Spiegel,Tommy Stödberg,Rachel Straussberg,Kathryn J. Swoboda,Mohnish Suri,Uta Tacke,Tiong Yang Tan,Johann te Water Naude,Keng Wee Teik,Maya Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente,Rudy Van Coster,Marjo S. van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey Wallace,Evangeline Wassmer,Hannah J. Webb,William P Whitehouse,Robyn Whitney,Maha S. Zaki,Sameer M. Zuberi,John H. Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I. Rice +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
References
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Journal ArticleDOI
Corrigendum: A diverse range of gene products are effectors of the type I interferon antiviral response.
John W. Schoggins,Sam J. Wilson,Maryline Panis,Mary Murphy,Christopher T. Jones,Paul D. Bieniasz,Charles M. Rice +6 more
TL;DR: In this paper, the authors used the WNV-GFP stock used in the data set (Fig. 2 and Supplementary Table 8 of the original Letter) for West Nile virus (WNV) in this Letter was actually Venezuelan equine encephalitis virus (VEEV)-GFP.
Journal ArticleDOI
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Yanick J. Crow,Yanick J. Crow,Bruce E. Hayward,Rekha Parmar,Peter Robins,Andrea Leitch,Manir Ali,Deborah N. Black,Hans van Bokhoven,Han G. Brunner,Ben C.J. Hamel,Peter Corry,Frances M. Cowan,S Frints,Joerg Klepper,John H. Livingston,Sally Ann Lynch,Roger F. Massey,Jean François Meritet,Jacques L. Michaud,Gérard Ponsot,Thomas Voit,Pierre Lebon,David T. Bonthron,Andrew P. Jackson,Deborah E. Barnes,Tomas Lindahl +26 more
TL;DR: TREX1, encoding the major mammalian 3′ → 5′ DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity, and failure of which results in the triggering of an abnormal innate immune response.
Journal ArticleDOI
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Gillian I. Rice,Paul R. Kasher,Gabriella Forte,Niamh M. Mannion,Sam M. Greenwood,Marcin Szynkiewicz,Jonathan E. Dickerson,Sanjeev S. Bhaskar,Massimiliano Zampini,Tracy A Briggs,Emma M. Jenkinson,Carlos A. Bacino,Roberta Battini,Enrico Bertini,Paul A. Brogan,Louise Brueton,Marialuisa Carpanelli,Corinne De Laet,Pascale de Lonlay,Mireia Del Toro,Isabelle Desguerre,Elisa Fazzi,Angels García-Cazorla,Arvid Heiberg,Masakazu Kawaguchi,Ram L. Kumar,Jean-Pierre Lin,Charles Marques Lourenço,Alison Male,Wilson Marques,Cyril Mignot,Ivana Olivieri,Simona Orcesi,Prab Prabhakar,Magnhild Rasmussen,Robert Robinson,Flore Rozenberg,Johanna L. Schmidt,Katharina Steindl,Tiong Yang Tan,William G. Van Der Merwe,Adeline Vanderver,Grace Vassallo,Emma Wakeling,Evangeline Wassmer,Elizabeth Whittaker,John H. Livingston,Pierre Lebon,Tamio Suzuki,Paul J. McLaughlin,Liam Keegan,Mary A O'Connell,Simon C. Lovell,Yanick J. Crow +53 more
TL;DR: It is shown that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome (AGS), and it is speculated that ADar1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.
Journal ArticleDOI
Virus interference. I. The interferon. By A. Isaacs and J. Lindenmann, 1957.
A Isaacs,J Lindenmann +1 more
Journal ArticleDOI
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Gillian I. Rice,Jacquelyn Bond,Aruna Asipu,Rebecca L. Brunette,Iain W. Manfield,Ian M. Carr,Jonathan C. Fuller,Richard M. Jackson,Teresa Lamb,Tracy A Briggs,Manir Ali,Hannah Gornall,Lydia R Couthard,Alec Aeby,Simon Attard-Montalto,Enrico Bertini,Christine Bodemer,Knut Brockmann,Louise Brueton,Peter Corry,Isabelle Desguerre,Elisa Fazzi,Angels Garcia Cazorla,Blanca Gener,Ben C.J. Hamel,Arvid Heiberg,Matthew F. Hunter,Marjo S. van der Knaap,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Charles Marques Lourenço,Daphna Marom,Michael F. McDermott,William G. Van Der Merwe,Simona Orcesi,Julie S. Prendiville,Magnhild Rasmussen,Stavit A. Shalev,Doriette Soler,Marwan Shinawi,Ronen Spiegel,Tiong Yang Tan,Adeline Vanderver,Emma Wakeling,Evangeline Wassmer,Elizabeth Whittaker,Pierre Lebon,Daniel B. Stetson,David T. Bonthron,Yanick J. Crow +50 more
TL;DR: Mutations in SAMHD1 are described as the cause of Aicardi-Goutières syndrome at the AGS5 locus and data is presented to show that SAM HD1 may act as a negative regulator of the cell-intrinsic antiviral response.
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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
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