Elaboration of the type I interferonopathies

Información del proyecto

E-T1IFNs

Identificador del acuerdo de subvención: 786142

DOI

10.3030/786142

Proyecto cerrado

Fecha de la firma de la CE 22 Junio 2018

Fecha de inicio 1 Noviembre 2018

Fecha de finalización 31 Octubre 2024

Financiado con arreglo a

• EXCELLENT SCIENCE - European Research Council (ERC)

Coste total

€ 2 418 800,00

Aportación de la UE

€ 2 418 800,00

Coordinado por

THE UNIVERSITY OF EDINBURGH
United Kingdom

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Publicaciones

Peer reviewed articles (34)

Human life within a narrow range: The lethal ups and downs of type I interferons

Autores: Yanick J. Crow, Jean-Laurent Casanova
Publicado en: Science Immunology, Edición 9, 2024, ISSN 2470-9468
Editor: AAAS
DOI: 10.1126/sciimmunol.adm8185

Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Autores: Marie-Louise Frémond, Alice Hadchouel, Laureline Berteloot, Isabelle Melki, Violaine Bresson, Laura Barnabei, Nadia Jeremiah, Alexandre Belot, Vincent Bondet, Olivier Brocq, Damien Chan, Rawane Dagher, Jean-Christophe Dubus, Darragh Duffy, Séverine Feuillet-Soummer, Mathieu Fusaro, Marco Gattorno, Antonella Insalaco, Eric Jeziorski, Naoki Kitabayashi, Mireia Lopez-Corbeto, Françoise Mazingue, M
Publicado en: The Journal of Allergy and Clinical Immunology: In Practice, Edición 9/2, 2021, Página(s) 803-818.e11, ISSN 2213-2198
Editor: Elsevier
DOI: 10.1016/j.jaip.2020.11.007

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

Autores: Alice Lepelley, Maria José Martin-Niclós, Melvin Le Bihan, Joseph A. Marsh, Carolina Uggenti, Gillian I. Rice, Vincent Bondet, Darragh Duffy, Jonny Hertzog, Jan Rehwinkel, Serge Amselem, Siham Boulisfane-El Khalifi, Mary Brennan, Edwin Carter, Lucienne Chatenoud, Stéphanie Chhun, Aurore Coulomb l’Hermine, Marine Depp, Marie Legendre, Karen J. Mackenzie, Jonathan Marey, Catherine McDougall, Ka
Publicado en: Journal of Experimental Medicine, Edición 217/11, 2020, ISSN 0022-1007
Editor: Rockefeller University Press
DOI: 10.1084/jem.20200600

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

Autores: Alice Lepelley; Erika Della Mina; Erika Van Nieuwenhove; Lise Waumans; Sylvie Fraitag; Gillian I. Rice; Ashish Dhir; Marie-Louise Frémond; Mathieu P. Rodero; Luis Seabra; Edwin Carter; Christine Bodemer; Daniela Buhas; Bert Callewaert; Pascale de Lonlay; Lien De Somer; David A. Dyment; Fran Faes; Lucy Grove; Simon Holden; Marie Hully; Manju A. Kurian; Hugh J. McMillan; Kristin Suetens; Henna Tyyn
Publicado en: Journal of Experimental Medicine,, Edición 218 (10),, 2021, Página(s) pp.e20201560 1-18, ISSN 1540-9538
Editor: Rockefeller University Press (United States)
DOI: 10.1084/jem.20201560

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Autores: Carolina Uggenti, Alice Lepelley, Marine Depp, Andrew P. Badrock, Mathieu P. Rodero, Marie-Thérèse El-Daher, Gillian I. Rice, Somdutta Dhir, Ann P. Wheeler, Ashish Dhir, Waad Albawardi, Marie-Louise Frémond, Luis Seabra, Jennifer Doig, Natalie Blair, Maria José Martin-Niclos, Erika Della Mina, Alejandro Rubio-Roldán, Jose L. García-Pérez, Duncan Sproul, Jan Rehwinkel, Jonny Hertzog, Anne Bo
Publicado en: Nature Genetics, Edición 52/12, 2020, Página(s) 1364-1372, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-020-00737-3

CNS disease associated with enhanced type I interferon signalling

Autores: Yanick J Crow
Publicado en: The Lancet Neurology, Edición 23, 2024, Página(s) 1158-1168, ISSN 1474-4422
Editor: The Lancet Publishing Group
DOI: 10.1016/s1474-4422(24)00263-1

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

Autores: Marie-Louise Frémond, Marie Hully, Benjamin Fournier, Rémi Barrois, Romain Lévy, Mélodie Aubart, Martin Castelle, Delphine Chabalier, Clarisse Gins, Eugénie Sarda, Buthaina Al Adba, Sophie Couderc, Céline D’ Almeida, Claire-Marine Berat, Chloé Durrleman, Caroline Espil, Laetitia Lambert, Cécile Méni, Maximilien Périvier, Pascal Pillet, Laura Polivka, Manuel Schiff, Calina Todosi, Flore
Publicado en: Journal of Clinical Immunology, Edición 43, 2023, Página(s) 1436-1447, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-023-01500-z

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2

Autores: Gaofeng Zhu, Mihaly Badonyi, Lina Franklin, Luis Seabra, Gillian I. Rice, Anne-Boland-Auge, Jean-François Deleuze, Salima El-Chehadeh, Mathieu Anheim, Anne de Saint-Martin, Sandra Pellegrini, Joseph A. Marsh, Yanick J. Crow & Marie-Therese El-Daher
Publicado en: Journal of Clinical Immunology, Edición May 2023, 2023, ISSN 1573-2592
Editor: Springer Nature
DOI: 10.1007/s10875-023-01445-3

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

Autores: Clémence David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Fabrizio De Benedetti, Simona Orcesi, Luisa Chiapparini, Patrizia Comoli, Silvia Federici, Marco Gattorno, Monia Ginevrino, Elisa Giorgio, Valentina Matteo, Patricia Moran-Alvarez, Davide Politano, Giusi Prencipe, Fabio Sirchia, Stefano Volpi, Cécile Masson, Gillian I. Rice, Marie-Louise Frémond, Alice Lepelley, Jo
Publicado en: Journal of Clinical Immunology, Edición 44, 2024, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-024-01660-6

MDA5 gain-of-function associated with a Glu794del mutation

Autores: Callie Wong, Lukas Gerasimavicius, Yanick J. Crow, Carolina Uggenti, null null, Jenny Carmichael, Hayley Lees, Gillian I Rice, Fraser JH Sutherland, Joseph A Marsh
Publicado en: Journal of Clinical Immunology, Edición 45, 2024, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-024-01813-7

Erythrocyte-derived mitochondria take to the lupus stage

Autores: Alice Lapelley; Yanick J. Crow
Publicado en: Cell Metabolism (Previews), Edición 33 (9); September 7, 2021, 2021, Página(s) 1723-1725, ISSN 1550-4131
Editor: Cell Press
DOI: 10.1016/j.cmet.2021.08.008

Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party

Autores: Helena Buso, Etai Adam, Peter D. Arkwright, Sagar Bhattad, Amir Ali Hamidieh, Maryam Behfar, Alexandre Belot, Sarah Benezech, Alice Y. Chan, Yanick J. Crow, Christopher C. Dvorak, Aisling M. Flinn, Urvi Kapoor, Arjan Lankester, Masao Kobayashi, Risa Matsumura, Hadi Mottaghipisheh, Satoshi Okada, Marie Ouachee, Nima Parvaneh, Stalin Ramprakash, Prakash Satwani, Samin Sharafian, Clément Triaille, R
Publicado en: Journal of Clinical Immunology, Edición 45, 2024, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-024-01819-1

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies

Autores: Lorenzo Lodi, Isabelle Melki, Vincent Bondet, Luis Seabra, Gillian I. Rice, Edwin Carter, Alice Lepelley, Maria José Martin-Niclós, Buthaina Al Adba, Brigitte Bader-Meunier, Magalie Barth, Thomas Blauwblomme, Christine Bodemer, Odile Boespflug-Tanguy, Russel C. Dale, Isabelle Desguerre, Camille Ducrocq, Fabienne Dulieu, Cécile Dumaine, Pierre Ellul, Alice Hadchouel, Véronique Hentgen, Miguel H
Publicado en: Journal of Clinical Immunology, Edición 41/3, 2021, Página(s) 603-609, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-020-00952-x

The Type I interferonopathies: 10 years on (Review)

Autores: Yanick J. Crow and Daniel B. Stetson
Publicado en: Nature Review; Immunology, Edición Published on-line, Oct 2021, 2021, ISSN 1474-1741
Editor: Nature Publishing Group (International)
DOI: 10.1038/s41577-021-00633-9

ARF1 prevents aberrant type I IFN induction by regulating STING activation and recycling

Autores: Maximilian Hirschenberger, Alice Lepelley, Ulrich Rupp, Susanne Klute, Victoria Hunszinger, Lennart Koepke, Veronika Merold, Blaise Didry-Barca, Fanny Wondany, Tim Bergner, Sebastian Wiese, Stefano Volpi, Marco Gattorno, Riccardo Papa, Sally-Ann Lynch, Marte G. Haug, Gunnar Houge, Kristen M. Wigby, Jessica Sprague, Jerica Lenberg, Clarissa Read, Paul Walther, Jens Michaelis, Frank Kirchhoff, Carin
Publicado en: Nature Communications, Edición 2023 Nov 1;14(1), 2023, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1101/2023.04.28.23289152

Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus

Autores: Clémence David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I. Rice, Blaise Didry-Barca, Lucie Maisonneuve, Luis Seabra, Robin Kechiche, Cécile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, Carle Paul, Gulshan Malik, Alison Ross, Jane Adam, Jo Walsh, Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bade
Publicado en: Journal of Experimental Medicine, Edición 221, 2024, ISSN 0022-1007
Editor: Rockefeller University Press
DOI: 10.1084/jem.20232066

Inheritance of STING mosaicism in two half-siblings

Autores: Alix de Becdelièvre, Laurye-Anne Eveillard, Beata Wolska-Kuśnierz, Marie-Louise Frémond, null null, Laureline Berteloot, Yanick J. Crow, Clémence David, Alice Hadchouel, Bénédicte Neven, Pierre Quartier, Gillian I. Rice, Luis Seabra, Anne Welfringer-Morin
Publicado en: Journal of Clinical Immunology, Edición 44, 2024, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-024-01768-9

Clinical Non‑penetrance Associated with Biallelic Mutations in the RNase H2 Complex

Autores: Crow YJ; AGS group
Publicado en: Journal of Clinical Immunology, Edición May 2023, 2023, ISSN 1573-2592
Editor: Springer Nature
DOI: 10.1007/s10875-023-01438-2

Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers.

Autores: Mathilde Labouret; Stefania Costi; Vincent Bondet; Vincent Trebossen; Enora Le Roux; Alexandra Ntorkou; Sophie Bartoli; Stéphane Auvin; Brigitte Bader-Meunier; Véronique Baudouin; Olivier Corseri; Glory Dingulu; Camille Ducrocq; Cécile Dumaine; Monique Elmaleh; Nicole Fabien; Albert Faye; Isabelle Hau; Véronique Hentgen; Théresa Kwon; Ulrich Meinzer; Naim Ouldali; Cyrielle Parmentier; Marie P
Publicado en: Journal of Clinical Immunology, Edición Apr 2023, 2023, ISSN 1573-2592
Editor: Springer Nature
DOI: 10.1007/s10875-022-01407-1

Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease [mini review]

Autores: Alice Lapelley; Timothy Wai; Yanick J. Crow
Publicado en: Frontiers in Immunology, Edición Vol 12; 26 August 2021, 2021, ISSN 0000-0000
Editor: Frontiers Media SA
DOI: 10.3389/fimmu.2021.729763

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation

Autores: Jonathan Bohlen, Ivan Bagarić, Taja Vatovec, Masato Ogishi, Syed F. Ahmed, Axel Cederholm, Lori Buetow, Steicy Sobrino, Corentin Le Floc’h, Carlos A. Arango-Franco, Luis Seabra, Marine Michelet, Federica Barzaghi, Davide Leardini, Francesco Saettini, Francesca Vendemini, Francesco Baccelli, Albert Catala, Eleonora Gambineri, Marinella Veltroni, Yurena Aguilar de la Red, Gillian I. Rice, Filippo
Publicado en: Journal of Clinical Investigation, Edición 134, 2024, ISSN 0021-9738
Editor: American Society for Clinical Investigation
DOI: 10.1172/jci181604

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

Autores: Gillian I. Rice, Sehoon Park, Francesco Gavazzi, Laura A. Adang, Loveline A. Ayuk, Lien Van Eyck, Luis Seabra, Christophe Barrea, Roberta Battini, Alexandre Belot, Stefan Berg, Thierry Billette de Villemeur, Annette E. Bley, Lubov Blumkin, Odile Boespflug‐Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darin, François‐Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Dian
Publicado en: Human Mutation, Edición 41/4, 2020, Página(s) 837-849, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
DOI: 10.1002/humu.23975

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Autores: 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
Publicado en: Journal of Experimental Medicine, Edición 216/5, 2019, Página(s) 1199-1213, ISSN 0022-1007
Editor: Rockefeller University Press
DOI: 10.1084/jem.20181329

Neuromyelitis optica in patients with increased interferon alpha concentrations

Autores: 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
Publicado en: The Lancet Neurology, Edición 19/1, 2020, Página(s) 31-33, ISSN 1474-4422
Editor: The Lancet Publishing Group
DOI: 10.1016/s1474-4422(19)30445-4

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

Autores: Carolina Uggenti, Alice Lepelley, Yanick J. Crow
Publicado en: Annual Review of Immunology, Edición 37/1, 2019, Página(s) 247-267, ISSN 0732-0582
Editor: Annual Reviews, Inc.
DOI: 10.1146/annurev-immunol-042718-041257

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy

Autores: 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
Publicado en: Neuropediatrics, Edición 51/03, 2020, Página(s) 178-184, ISSN 0174-304X
Editor: Georg Thieme Verlag
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

Autores: 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
Publicado en: The Lancet Rheumatology, Edición 2/2, 2020, Página(s) e99-e109, ISSN 2665-9913
Editor: Elsevier
DOI: 10.1016/s2665-9913(19)30142-0

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

Autores: 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
Publicado en: Science Immunology, Edición 4/42, 2019, Página(s) eaav7501, ISSN 2470-9468
Editor: American Association for the Advancement of Science
DOI: 10.1126/sciimmunol.aav7501

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Autores: 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
Publicado en: New England Journal of Medicine, Edición 379/23, 2018, Página(s) 2275-2277, ISSN 0028-4793
Editor: Massachusetts Medical Society
DOI: 10.1056/NEJMc1810983

The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies

Autores: Barney Viengkhou, Emina Hayashida, Sarah McGlasson, Katie Emelianova, Deborah Forbes, Stewart Wiseman, Joanna Wardlaw, Rovin Verdillo, Sarosh R. Irani, Darragh Duffy, Fredrik Piehl, Lipin Loo, Axel Pagenstecher, G. Greg Neely, Yanick J. Crow, Iain L. Campbell, David P.J. Hunt, Markus J. Hofer
Publicado en: Immunity, Edición 57, 2024, Página(s) 1696-1709.e10, ISSN 1074-7613
Editor: Cell Press
DOI: 10.1016/j.immuni.2024.05.017

Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling

Autores: Abraham Shim, Xiaohan Luan, Wen Zhou, Yanick J Crow, John Maciejowski
Publicado en: Human Molecular Genetics, Edición 33, 2024, Página(s) 1555-1566, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddae089

A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant

Autores: Jarmila Stremenova Spegarova, Praisoody Sinnappurajar, Dalila Al Julandani, Rokas Navickas, Helen Griffin, Manisha Ahuja, Angela Grainger, Katie Livingstone, Gillian I. Rice, Fraser Sutherland, Corinne Hayes, Simon Parke, Lewis Pang, Marion R. Roderick, Mary Slatter, Yanick Crow, Athimalaipet V. Ramanan, Sophie Hambleton
Publicado en: Journal of Clinical Investigation, Edición 134, 2024, ISSN 0021-9738
Editor: American Society for Clinical Investigation
DOI: 10.1172/jci179193

Type I interferon–related kidney disorders

Autores: Lorenzo Lodi; Maria V. Mastrolia; Federica Bello; Giovanni M. Rossi; Maria L. Angelotti; Yanick J. Crow; Paola Romagnani; Augusto Vaglio
Publicado en: Kidney International, Edición Jun 2022, 2022, ISSN 0085-2538
Editor: Blackwell Publishing Inc.
DOI: 10.1016/j.kint.2022.02.031

Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation

Autores: Clément Triaille, Neha Mohan Rao, Gillian I. Rice, Luis Seabra, Fraser J. H. Sutherland, Vincent Bondet, Darragh Duffy, Andrew R. Gennery, Benjamin Fournier, Brigitte Bader-Meunier, Christopher Troedson, Gavin Cleary, Helena Buso, Jacqueline Dalby-Payne, Prajakta Ranade, Katrien Jansen, Lien De Somer, Marie-Louise Frémond, Pallavi Pimpale Chavan, Melanie Wong, Russell C. Dale, Carine Wouters, Pi
Publicado en: Journal of Clinical Immunology, Edición 44, 2024, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-024-01788-5