Elaboration of the type I interferonopathies

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Publications

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

Author(s): Yanick J. Crow, Jean-Laurent Casanova
Published in: Science Immunology, Issue 9, 2024, ISSN 2470-9468
Publisher: AAAS
DOI: 10.1126/sciimmunol.adm8185

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

Author(s): 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
Published in: The Journal of Allergy and Clinical Immunology: In Practice, Issue 9/2, 2021, Page(s) 803-818.e11, ISSN 2213-2198
Publisher: Elsevier
DOI: 10.1016/j.jaip.2020.11.007

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

Author(s): 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
Published in: Journal of Experimental Medicine, Issue 217/11, 2020, ISSN 0022-1007
Publisher: Rockefeller University Press
DOI: 10.1084/jem.20200600

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

Author(s): 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
Published in: Journal of Experimental Medicine,, Issue 218 (10),, 2021, Page(s) pp.e20201560 1-18, ISSN 1540-9538
Publisher: 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

Author(s): 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
Published in: Nature Genetics, Issue 52/12, 2020, Page(s) 1364-1372, ISSN 1061-4036
Publisher: Nature Publishing Group
DOI: 10.1038/s41588-020-00737-3

CNS disease associated with enhanced type I interferon signalling

Author(s): Yanick J Crow
Published in: The Lancet Neurology, Issue 23, 2024, Page(s) 1158-1168, ISSN 1474-4422
Publisher: 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

Author(s): 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
Published in: Journal of Clinical Immunology, Issue 43, 2023, Page(s) 1436-1447, ISSN 0271-9142
Publisher: 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

Author(s): 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
Published in: Journal of Clinical Immunology, Issue May 2023, 2023, ISSN 1573-2592
Publisher: Springer Nature
DOI: 10.1007/s10875-023-01445-3

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

Author(s): 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
Published in: Journal of Clinical Immunology, Issue 44, 2024, ISSN 0271-9142
Publisher: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-024-01660-6

MDA5 gain-of-function associated with a Glu794del mutation

Author(s): Callie Wong, Lukas Gerasimavicius, Yanick J. Crow, Carolina Uggenti, null null, Jenny Carmichael, Hayley Lees, Gillian I Rice, Fraser JH Sutherland, Joseph A Marsh
Published in: Journal of Clinical Immunology, Issue 45, 2024, ISSN 0271-9142
Publisher: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-024-01813-7

Erythrocyte-derived mitochondria take to the lupus stage

Author(s): Alice Lapelley; Yanick J. Crow
Published in: Cell Metabolism (Previews), Issue 33 (9); September 7, 2021, 2021, Page(s) 1723-1725, ISSN 1550-4131
Publisher: 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

Author(s): 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
Published in: Journal of Clinical Immunology, Issue 45, 2024, ISSN 0271-9142
Publisher: 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

Author(s): 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
Published in: Journal of Clinical Immunology, Issue 41/3, 2021, Page(s) 603-609, ISSN 0271-9142
Publisher: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-020-00952-x

The Type I interferonopathies: 10 years on (Review)

Author(s): Yanick J. Crow and Daniel B. Stetson
Published in: Nature Review; Immunology, Issue Published on-line, Oct 2021, 2021, ISSN 1474-1741
Publisher: Nature Publishing Group (International)
DOI: 10.1038/s41577-021-00633-9

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

Author(s): 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
Published in: Nature Communications, Issue 2023 Nov 1;14(1), 2023, ISSN 2041-1723
Publisher: 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

Author(s): 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
Published in: Journal of Experimental Medicine, Issue 221, 2024, ISSN 0022-1007
Publisher: Rockefeller University Press
DOI: 10.1084/jem.20232066

Inheritance of STING mosaicism in two half-siblings

Author(s): 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
Published in: Journal of Clinical Immunology, Issue 44, 2024, ISSN 0271-9142
Publisher: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-024-01768-9

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

Author(s): Crow YJ; AGS group
Published in: Journal of Clinical Immunology, Issue May 2023, 2023, ISSN 1573-2592
Publisher: Springer Nature
DOI: 10.1007/s10875-023-01438-2

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

Author(s): 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
Published in: Journal of Clinical Immunology, Issue Apr 2023, 2023, ISSN 1573-2592
Publisher: 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]

Author(s): Alice Lapelley; Timothy Wai; Yanick J. Crow
Published in: Frontiers in Immunology, Issue Vol 12; 26 August 2021, 2021, ISSN 0000-0000
Publisher: 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

Author(s): 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
Published in: Journal of Clinical Investigation, Issue 134, 2024, ISSN 0021-9738
Publisher: American Society for Clinical Investigation
DOI: 10.1172/jci181604

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

Author(s): 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
Published in: Human Mutation, Issue 41/4, 2020, Page(s) 837-849, ISSN 1059-7794
Publisher: John Wiley & Sons Inc.
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
Publisher: Rockefeller University Press
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
Publisher: The Lancet Publishing Group
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
Publisher: Annual Reviews, Inc.
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
Publisher: 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

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
Publisher: 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

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
Publisher: American Association for the Advancement of Science
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
Publisher: Massachusetts Medical Society
DOI: 10.1056/NEJMc1810983

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

Author(s): 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
Published in: Immunity, Issue 57, 2024, Page(s) 1696-1709.e10, ISSN 1074-7613
Publisher: Cell Press
DOI: 10.1016/j.immuni.2024.05.017

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

Author(s): Abraham Shim, Xiaohan Luan, Wen Zhou, Yanick J Crow, John Maciejowski
Published in: Human Molecular Genetics, Issue 33, 2024, Page(s) 1555-1566, ISSN 0964-6906
Publisher: Oxford University Press
DOI: 10.1093/hmg/ddae089

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

Author(s): 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
Published in: Journal of Clinical Investigation, Issue 134, 2024, ISSN 0021-9738
Publisher: American Society for Clinical Investigation
DOI: 10.1172/jci179193

Type I interferon–related kidney disorders

Author(s): Lorenzo Lodi; Maria V. Mastrolia; Federica Bello; Giovanni M. Rossi; Maria L. Angelotti; Yanick J. Crow; Paola Romagnani; Augusto Vaglio
Published in: Kidney International, Issue Jun 2022, 2022, ISSN 0085-2538
Publisher: 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

Author(s): 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
Published in: Journal of Clinical Immunology, Issue 44, 2024, ISSN 0271-9142
Publisher: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-024-01788-5

Searching for OpenAIRE data...

Publications

Share this page Share this page on social networks

Download Download the content of the page