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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THU0009 Towards precision medicine in connective tissue diseases: genomic and transcriptomic studies
Tracy A Briggs,John A. Reynolds,Gillian I. Rice,Vincent Bondet,Ellen Bruce,Yanick J. Crow,Yanick J. Crow,Darragh Duffy,B. Parker,Ian N. Bruce +9 more
TL;DR: This work demonstrates that through deep phenotyping of patients with corollary ‘omic studies, a CTD subset, that is not restricted to a single diagnostic grouping, can be identified in whom targeted anti-interferon therapy would likely be of great value.
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The role of type I IFN in autoimmune and autoinflammatory diseases with CNS involvement
Sylvia Raftopoulou,Anna Rapti,Dimitris Karathanasis,Maria-Eleftheria Evangelopoulos,Clio P. Mavragani +4 more
TL;DR: In this article , the authors summarized the current evidence on the mechanisms of type I IFN production by CNS cellular populations as well as its local effects on the central nervous system (CNS) manifestations in the setting of chronic autoimmune and autoinflammatory disorders, while IFN-β has been for years, a well-established therapeutic modality for multiple sclerosis.
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Immunodeficiency and Rheumatic Diseases
TL;DR: To recognize patients with underlying primary immunodeficiencies presenting with rheumatological features, use the acronym RAI to describe patients with RA symptoms and the word RA to describe the disease itself.
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Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy.
Besim Uzgil,Elliott H. Sherr +1 more
TL;DR: Three decades of highly productive clinical and scientific investigation of Aicardi-Goutières syndrome has led to the discovery of 7 causative genes and the realization that mutation in any of these leads to a genetically mediated autoimmune response to nucleic acid metabolism, analogous to systemic lupus erythematosus, in the developing brain.
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Special Issue “Genomics of Stroke” 2022
TL;DR: Stroke is one of the greatest medical threats to human health and quality of life in modern society as discussed by the authors , and it is the most common cause of death in stroke patients.
References
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Journal ArticleDOI
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.
Journal ArticleDOI
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.
Journal ArticleDOI
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.
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