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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Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Tracy A Briggs,Gillian I. Rice,Navid Adib,Lesley C. Adès,Stephane Barete,Kannan Baskar,Véronique Baudouin,Ayşe Nurcan Cebeci,Philippe Clapuyt,David Coman,Lien De Somer,Yael Finezilber,Moshe Frydman,Ayla Güven,Sébastien Héritier,Daniela Karall,M. L. Kulkarni,Pierre Lebon,David Levitt,Martine Le Merrer,Agnès Linglart,John H. Livingston,Vincent Navarro,Ericka Okenfuss,Anne Puel,Nicole Revencu,Sabine Scholl-Bürgi,Marina Vivarelli,Carine Wouters,Brigitte Bader-Meunier,Yanick J. Crow +30 more
TL;DR: This book celebrates the 20th anniversary of the publication of the first book of this kind to be published in the United States, edited by Tracy A. Briggs and Gillian I. Crow.
Book ChapterDOI
Degenerative Disorders of the Newborn
TL;DR: Dgenerative disorders of the newborn are divided into those that primarily affect gray matter, white matter, or both, and those that have regional selectivity for the cerebellum, pons, or basal ganglia.
Journal ArticleDOI
TREX1 plays multiple roles in human diseases.
TL;DR: In this article , the authors summarized previous studies assessing the function and mechanisms of TREX1 in autoimmune diseases, inflammatory diseases, and cancer and discuss the relationship between the exonuclease function and its associated diseases.
Journal ArticleDOI
Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome.
Francesco Gavazzi,Francesco Gavazzi,Jamie L. Fraser,Miriam Bloom,Laura Tochen,Jullie Rhee,Megan Kwan,Teresa Victoria,David T. Teachey,David T. Teachey,Cheng-Ying Ho,Adeline Vanderver,Adeline Vanderver,Rebecca L. Linn +13 more
References
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Virus interference. I The interferon
Alick Isaacs,Jean Lindenmann +1 more
TL;DR: During a study of the interference produced by heat-inactivated influenza virus with the growth of live virus in fragments of chick chorio-allantoic membrane it was found that following incubation of heated virus with membrane a new factor was released.
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Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus
Emily C. Baechler,Franak Batliwalla,George Karypis,Patrick M. Gaffney,Ward A. Ortmann,Karl J. Espe,Katherine B. Shark,William J. Grande,Karis M. Hughes,Vivek Kapur,Peter K. Gregersen,Timothy W. Behrens +11 more
TL;DR: Global gene expression profiling of peripheral blood mononuclear cells is used to identify distinct patterns of gene expression that distinguish most SLE patients from healthy controls, and identify a subgroup of patients who may benefit from therapies targeting the IFN pathway.
Journal ArticleDOI
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: It is shown that different viruses are targeted by unique sets of ISGs, and that each viral species is susceptible to multiple antiviral genes, which together encompass a range of inhibitory activities.
Journal ArticleDOI
Interferon and Granulopoiesis Signatures in Systemic Lupus Erythematosus Blood
Lynda Bennett,A. Karolina Palucka,Edsel Arce,Edsel Arce,Victoria Cantrell,Victoria Cantrell,Josef Borvak,Jacques Banchereau,Virginia Pascual,Virginia Pascual +9 more
TL;DR: Microarray analysis of blood cells reveals that immature granulocytes may be involved in SLE pathogenesis, and the IFN signature confirms the central role of this cytokine in Sle, using oligonucleotide microarrays.
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Immune interferon in the circulation of patients with autoimmune disease.
John J. Hooks,Haralampos M. Moutsopoulos,Shirley A. Geis,Neil Stahl,John L. Decker,Abner Louis Notkins +5 more
TL;DR: It is possible that the production of interferon may contribute to immunologic aberrations in auto-immune diseases and also protect the already compromised host from viral infections.
Related Papers (5)
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
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
Activated STING in a Vascular and Pulmonary Syndrome
Yongmei Liu,A Almeida de Jesus,B Marrero,Dan Yang,Suzanne E. Ramsey,Suzanne E. Ramsey,G.A. Montealegre Sanchez,Klaus Tenbrock,Klaus Tenbrock,Helmut Wittkowski,Helmut Wittkowski,Olcay Y. Jones,Olcay Y. Jones,Hye Sun Kuehn,Chyi-Chia Richard Lee,Michael A. DiMattia,Edward W. Cowen,Benito Gonzalez,Ira Palmer,J.J. DiGiovanna,Angelique Biancotto,H. Kim,Wanxia L. Tsai,Anna M. Trier,Yhu Chering Huang,Deborah L. Stone,S Hill,Hanna Kim,C. St. Hilaire,Shakuntala Gurprasad,Nicole Plass,D. Chapelle,Iren Horkayne-Szakaly,Iren Horkayne-Szakaly,Dirk Foell,Dirk Foell,Andrei Barysenka,Andrei Barysenka,Fabio Candotti,Steven M. Holland,Jason D. Hughes,Jason D. Hughes,Huseyin Mehmet,Huseyin Mehmet,Andrew C. Issekutz,Andrew C. Issekutz,Mark Raffeld,Joshua J McElwee,Joshua J McElwee,Joseph R. Fontana,Caterina P. Minniti,Susan Moir,Daniel L. Kastner,Massimo Gadina,A.C. Steven,Paul T. Wingfield,Stephen R. Brooks,Sofia Rosenzweig,Thomas A. Fleisher,Zuoming Deng,Manfred Boehm,Amy S. Paller,Amy S. Paller,Raphaela Goldbach-Mansky +63 more
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