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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Movement disorders in ADAR1 disease: Insights from a comprehensive cohort.
Giulia Di Lazzaro,Federica Graziola,Andrea Sancesario,Antonella Insalaco,Gian Marco Moneta,Enrico Castelli,Enrico Bertini,Lorena Travaglini,Fabrizia Stregapede,Alessandro Capuano,Gessica Vasco,Tommaso Schirinzi +11 more
TL;DR: P phenomenology of MDs in ADAR1-related diseases is wide and heterogeneous, although a severe motor syndrome (often characterized by dystonia) secondary to brain lesions represents the most common manifestation.
Journal ArticleDOI
A field guide to current advances in paediatric movement disorders
TL;DR: This review puts recent findings into context providing a framework to enable navigation of the expanding literature in this field of paediatric movement disorders, as well as highlighting the growing use of next-generation sequencing.
Dissertation
Elucidation of the molecular mechanisms responsible for the central folate deficiency associated with mitochondrial disease
TL;DR: A CSF AA reference range was established and a significant positive correlation between CSF 5-MTHF and AA demonstrated and co-supplementation of folinic acid and AA may be of therapeutic benefit.
Journal ArticleDOI
Autosomal dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function
Lyse Ruaud,Gillian I. Rice,Christelle Cabrol,Juliette Piard,Mathieu P Rodero,Lien van Eyk,Elise Boucher-Brischoux,Alain Maertens de Noordhout,Ricardo Maré,Emmanuel Scalais,Fernand Pauly,François-Guillaume Debray,William B. Dobyns,Carolina Uggenti,Ji Woo Park,Sun Hur,John H. Livingston,Yanick J. Crow,Yanick J. Crow,Yanick J. Crow,Lionel Van Maldergem,Lionel Van Maldergem +21 more
TL;DR: This report illustrates, for the first time, the occurrence of autosomal‐dominant spastic paraplegia with intracranial calcifications due to an IFIH1‐related type 1 interferonopathy in two male siblings and the daughter of one of these individuals.
Journal ArticleDOI
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.
Jessica Galli,Francesco Gavazzi,Micaela De Simone,Silvia Giliani,Jessica Garau,Marialuisa Valente,Donatella Vairo,Marco Cattalini,Marzia Mortilla,Laura Andreoli,Raffaele Badolato,Marika Bianchi,Nice Carabellese,Cristina Cereda,Rosalba Monica Ferraro,Fabio Facchetti,Micaela Fredi,Giulio Gualdi,Luisa Lorenzi,Antonella Meini,Simona Orcesi,Angela Tincani,Alessandra Zanola,Gillian I. Rice,Elisa Fazzi +24 more
TL;DR: Examining the type I interferon signature and AGS related-genes in children with sine causa tetraparesis found them to be a reliable biomarker for AGS and should be considered in sine-causa tetrapearesis.
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: 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
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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
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Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
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