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Elaboration of the type I interferonopathies

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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Published in: ISSN 1059-7794
DOI: 10.1002/humu.23975

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Author(s): Matthieu Gratia, Mathieu P. Rodero, Cécile Conrad, Elias Bou Samra, Mathieu Maurin, Gillian I. Rice, Darragh Duffy, Patrick Revy, Florence Petit, Russell C. Dale, Yanick J. Crow, Mounira Amor-Gueret, Nicolas Manel
Published in: Journal of Experimental Medicine, Issue 216/5, 2019, Page(s) 1199-1213, ISSN 0022-1007
DOI: 10.1084/jem.20181329

Neuromyelitis optica in patients with increased interferon alpha concentrations

Author(s): Jac Williams, Sarah McGlasson, Sarosh Irani, Darragh Duffy, Yanick Crow, David Hunt, Katy Murray, Robert Wilson, Andrew P Jackson, Alexa Jury, Mathieu Rodero, Vincent Bondet, Anu Jacob, Shahd Hamid, Nuno Cordeiro, Ondrej Dolezal, Patrick Statham, Stewart Wiseman, Joanna Wardlaw, Christina Hertel, Adrian Hayday
Published in: The Lancet Neurology, Issue 19/1, 2020, Page(s) 31-33, ISSN 1474-4422
DOI: 10.1016/s1474-4422(19)30445-4

Self-Awareness: Nucleic Acid–Driven Inflammation and the Type I Interferonopathies

Author(s): Carolina Uggenti, Alice Lepelley, Yanick J. Crow
Published in: Annual Review of Immunology, Issue 37/1, 2019, Page(s) 247-267, ISSN 0732-0582
DOI: 10.1146/annurev-immunol-042718-041257

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy

Author(s): Lien Van Eyck, Francesco Bruni, Anne Ronan, Tracy A. Briggs, Tony Roscioli, Gillian I. Rice, Grace Vassallo, Mathieu P. Rodero, Langping He, Robert W. Taylor, John H. Livingston, Zofia M. A. Chrzanowska-Lightowlers, Yanick J. Crow
Published in: Neuropediatrics, Issue 51/03, 2020, Page(s) 178-184, ISSN 0174-304X
DOI: 10.1055/s-0039-3400979

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

Author(s): Alexandre Belot, Gillian I Rice, Sulliman Ommar Omarjee, Quentin Rouchon, Eve M D Smith, Marion Moreews, Maud Tusseau, Cécile Frachette, Raphael Bournhonesque, Nicole Thielens, Christine Gaboriaud, Isabelle Rouvet, Emilie Chopin, Akihiro Hoshino, Sylvain Latour, Bruno Ranchin, Rolando Cimaz, Paula Romagnani, Christophe Malcus, Nicole Fabien, Marie-Nathalie Sarda, Behrouz Kassai, Jean-Christophe L
Published in: The Lancet Rheumatology, Issue 2/2, 2020, Page(s) e99-e109, ISSN 2665-9913
DOI: 10.1016/s2665-9913(19)30142-0

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

Author(s): Christopher J. A. Duncan, Benjamin J. Thompson, Rui Chen, Gillian I. Rice, Florian Gothe, Dan F. Young, Simon C. Lovell, Victoria G. Shuttleworth, Vicky Brocklebank, Bronte Corner, Andrew J. Skelton, Vincent Bondet, Jonathan Coxhead, Darragh Duffy, Cecile Fourrage, John H. Livingston, Julija Pavaine, Edmund Cheesman, Stephania Bitetti, Angela Grainger, Meghan Acres, Barbara A. Innes, Aneta Mikulas
Published in: Science Immunology, Issue 4/42, 2019, Page(s) eaav7501, ISSN 2470-9468
DOI: 10.1126/sciimmunol.aav7501

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Author(s): Gillian I. Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, Michaela Semeraro, Leo A.H. Zeef, Flore Rozenberg, Vincent Bondet, Darragh Duffy, Alba Llibre, Jinmi Baek, Mame N. Sambe, Elodie Henry, Valerie Jolaine, Christine Barnerias, Magalie Barth, Alexandre Belot, Claude Cances, François-Guillaume Debray, Diane Doummar, Marie-Louise Frémond, Naoki Kitabayashi, Alice Lepelley
Published in: New England Journal of Medicine, Issue 379/23, 2018, Page(s) 2275-2277, ISSN 0028-4793
DOI: 10.1056/NEJMc1810983