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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Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.
Marco Cattalini,Jessica Galli,Laura Andreoli,Ivana Olivieri,Giada Ariaudo,Micaela Fredi,Simona Orcesi,Angela Tincani,Elisa Fazzi +8 more
TL;DR: Definite autoimmune diseases are not common in patients with AGS and autoantibodies are mainly directed towards nucleic acids-containing elements but seem not to be pathogenic and, rather, may represent an epiphenomenon of the enhanced interferon production.
Journal ArticleDOI
TREX1 variants in Sjogren's syndrome related lymphomagenesis.
Adrianos Nezos,Panagiota Makri,Saviana Gandolfo,Salvatore De Vita,Michael Voulgarelis,Mary K. Crow,Clio P. Mavragani +6 more
TL;DR: Genetically related dampened type I IFN production as an additional mechanism for SS-related lymphomagenesis support genetically related dampening type I interferon (IFN) related genes and TREX1.
Journal ArticleDOI
Multi-Modal Characterization of Monocytes in Idiopathic Pulmonary Fibrosis Reveals a Primed Type I Interferon Immune Phenotype.
Emily Fraser,Laura Denney,Agne Antanaviciute,Karl Blirando,Chaitanya Vuppusetty,Yuejuan Zheng,Yuejuan Zheng,Emmanouela Repapi,Valentina Iotchkova,Stephen Taylor,Neil Ashley,Victoria St Noble,Rachel Benamore,Rachel K. Hoyles,Colin Clelland,Joseph M D Rastrick,Clare S. Hardman,Nasullah K Alham,Rachel E. Rigby,Alison Simmons,Jan Rehwinkel,Ling-Pei Ho +21 more
TL;DR: In this article, the authors determined the immune phenotype of monocytes in IPF using multi-colour flow cytometry, RNA sequencing and corresponding serum factors, and mapped the main findings to amount of lung fibrosis and single cell transcriptomic landscape of myeloid cells.
Journal ArticleDOI
The interferon-gamma pathway is selectively up-regulated in the liver of patients with secondary hemophagocytic lymphohistiocytosis.
Giusi Prencipe,Claudia Bracaglia,Ivan Caiello,Antonia Pascarella,Paola Francalanci,M Pardeo,Alessandra Meneghel,Giorgia Martini,Marianna Nicoletta Rossi,Antonella Insalaco,Giulia Marucci,Valerio Nobili,Marco Spada,Francesco Zulian,Fabrizio De Benedetti +14 more
TL;DR: Measurement of circulating CXCL9 levels and evaluation of IFNγ–inducible gene expression levels in PBMCs may represent a new valid tool to better identify patients with suspected HLH with predominant liver involvement.
Journal ArticleDOI
Higher interferon score and normal complement levels may identify a distinct clinical subset in children with systemic lupus erythematosus
Alessandra Tesser,Luciana Martins de Carvalho,Paula Sandrin-Garcia,Alessia Pin,Serena Pastore,Andrea Taddio,Luciana Rodrigues Roberti,Rosane Gomes de Paula Queiroz,Virgínia Paes Leme Ferriani,Sergio Crovella,Alberto Tommasini +10 more
TL;DR: The integration between IFN signature analysis and complement levels may easily distinguish two groups of subjects, in which the autoimmune or autoinflammatory component of the disease seems to be prevalent.
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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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.
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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.
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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.
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