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Generation of two iPSC lines from patients with Aicardi-Goutie`res syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139) Zerad, Lisa; Didry-Barca, Blaise; Banal, Celine; Onteniente, Brigitte; Lefort, Nathalie; Lepelley, Alice; Seabra, Luis; Hully, Marie; Zweier, Christiane; Bondurand, Nadege; Crow, Yanick J.; Fremond, Marie-Louise Share Save
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Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party Buso, Helena; Adam, Etai; Arkwright, Peter D.; Bhattad, Sagar; Hamidieh, Amir Ali; Behfar, Maryam; Belot, Alexandre; Benezech, Sarah; Chan, Alice Y.; Crow, Yanick J.; Dvorak, Christopher C.; Flinn, Aisling M.; Kapoor, Urvi; Lankester, Arjan; Kobayashi, Masao; Matsumura, Risa; Mottaghipisheh, Hadi; Okada, Satoshi; Ouachee, Marie; Parvaneh, Nima; Ramprakash, Stalin; Satwani, Prakash; Sharafian, Samin; Triaille, Clement; Wynn, Robert F.; Movahedi, Nasim; Ziaee, Vahid; Williams, Eleri; Slatter, Mary; Gennery, Andrew R. Share Save
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERIC-mediated monocyte activation Bohlen, Jonathan; Bagaric, Ivan; Vatovec, Taja; Ogishi, Masato; Ahmed, Syed F.; Cederholm, Axel; Buetow, Lori; Sobrino, Steicy; Le Floc'h, Corentin; Arango-Franco, Carlos A.; Seabra, Luis; Michelet, Marine; Barzaghi, Federica; Leardini, Davide; Saettini, Francesco; Vendemini, Francesca; Baccelli, Francesco; Catala, Albert; Gambineri, Eleonora; Veltroni, Marinella; de la Red, Purena Aguilar; Rice, Gillian I.; Consonni, Filippo; Berteloot, Laureline; Largeaud, Laetitia; Conti, Francesca; Roullion, Cecile; Masson, Cecile; Bessot, Boris; Seeleuthner, Yoann; Le Voyer, Tom; Rinchai, Darawan; Rosain, Jeremie; Neehus, Anna-Lena; Erazo-Borras, Lucia; Li, Hailun; Janda, Zarah; Cho, En-Jui; Muratore, Edoardo; Soudee, Camille; Laine, Candice; Delabesse, Eric; Goulvestre, Claire; Ma, Cindy S.; Puel, Anne; Tangye, Stuart G.; Andre, Isabelle; Bole-Feysot, Christine; Abel, Laurent; Erlacher, Miriam; Zhang, Shen-Ping; Beziat, Vivien; Lagresle-Peyrou, Chantal; Six, Emmanuelle; Pasquet, Marlene; Alsina, Laia; Aiuti, Alessandro; Zhang, Peng; Crow, Yanick J.; Landegren, Nils; Masetti, Riccardo; Huang, Danny T.; Casanova, Jean-Laurent; Bustamante, Jacinta Share Save
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Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation Triaille, Clement; Rao, Neha Mohan; Rice, Gillian I.; Seabra, Luis; Sutherland, Fraser J. H.; Bondet, Vincent; Duffy, Darragh; Gennery, Andrew R.; Fournier, Benjamin; Bader-Meunier, Brigitte; Troedson, Christopher; Cleary, Gavin; Buso, Helena; Dalby-Payne, Jacqueline; Ranade, Prajakta; Jansen, Katrien; De Somer, Lien; Fremond, Marie-Louise; Chavan, Pallavi Pimpale; Wong, Melanie; Dale, Russell C.; Wouters, Carine; Quartier, Pierre; Khubchandani, Raju; Crow, Yanick J. Share Save
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The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies Viengkhou, Barney; Hayashida, Emina; Mcglasson, Sarah; Emelianova, Katie; Forbes, Deborah; Wiseman, Stewart; Wardlaw, Joanna; Verdillo, Rovin; Irani, Sarosh R.; Duffy, Darragh; Piehl, Fredrik; Loo, Lipin; Pagenstecher, Axel; Neely, G. Greg; Crow, Yanick J.; Campbell, Iain L.; Hunt, David P. J.; Hofer, Markus J. Share Save
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus David, Clemence; Arango-Franco, Carlos A.; Badonyi, Mihaly; Fouchet, Julien; Rice, Gillian I.; Didry-Barca, Blaise; Maisonneuve, Lucie; Seabra, Luis; Kechiche, Robin; Masson, Cecile; Cobat, Aurelie; Abel, Laurent; Talouarn, Estelle; Beziat, Vivien; Deswarte, Caroline; Livingstone, Katie; Paul, Carle; Malik, Gulshan; Ross, Alison; Adam, Jane; Walsh, Jo; Kumar, Sathish; Bonnet, Damien; Bodemer, Christine; Bader-Meunier, Brigitte; Marsh, Joseph A.; Casanova, Jean-Laurent; Crow, Yanick J.; Manoury, Benedicte; Fremond, Marie-Louise; Bohlen, Jonathan; Lepelley, Alice Share Save
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A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant Spegarova, Jarmila Stremenova; Sinnappurajar, Praisoody; Al Julandani, Dalila; Navickas, Rokas; Griffin, Helen; Ahuja, Manisha; Grainger, Angela; Livingstone, Katie; Rice, Gillian I.; Sutherland, Fraser; Hayes, Corinne; Parke, Simon; Pang, Lewis; Roderick, Marion R.; Slatter, Mary; Crow, Yanick; Ramanan, Athimalaipet V.; Hambleton, Sophie Share Save
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervag, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Ase K.; Caiella, Alessia; Glomnes, Nina; Bronstad, Kirsten M.; Tury, Sandrine; De Luca, Andres Moreno; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-Francois; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; Ipek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da'as, Sahar I.; Fakhro, Khalid A.; Gomez-Pascual, Alicia; Botia, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gael; Arnesen, Thomas; Houlden, Henry Share Save
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease David, Clemence; Badonyi, Mihaly; Kechiche, Robin; Insalaco, Antonella; Zecca, Marco; De Benedetti, Fabrizio; Orcesi, Simona; Chiapparini, Luisa; Comoli, Patrizia; Federici, Silvia; Gattorno, Marco; Ginevrino, Monia; Giorgio, Elisa; Matteo, Valentina; Moran-Alvarez, Patricia; Politano, Davide; Prencipe, Giusi; Sirchia, Fabio; Volpi, Stefano; Masson, Cecile; Rice, Gillian I.; Fremond, Marie-Louise; Lepelley, Alice; Marsh, Joseph A.; Crow, Yanick J. Share Save
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling Hirschenberger, Maximilian; Lepelley, Alice; Rupp, Ulrich; Klute, Susanne; Hunszinger, Victoria; Koepke, Lennart; Merold, Veronika; Didry-Barca, Blaise; Wondany, Fanny; Bergner, Tim; Moreau, Tatiana; Rodero, Mathieu P.; Roesler, Reinhild; Wiese, Sebastian; Volpi, Stefano; Gattorno, Marco; Papa, Riccardo; Lynch, Sally-Ann; Haug, Marte G.; Houge, Gunnar; Wigby, Kristen M.; Sprague, Jessica; Lenberg, Jerica; Read, Clarissa; Walther, Paul; Michaelis, Jens; Kirchhoff, Frank; Mann, Carina C. de Oliveira; Crow, Yanick J.; Sparrer, Konstantin M. J. Share Save
JAK Inhibition in Aicardi-Goutieres Syndrome: a Monocentric Multidisciplinary Real-World Approach Study Fremond, Marie-Louise; Hully, Marie; Fournier, Benjamin; Barrois, Remi; Levy, Romain; Aubart, Melodie; Castelle, Martin; Chabalier, Delphine; Gins, Clarisse; Sarda, Eugenie; Al Adba, Buthaina; Couderc, Sophie; D' Almeida, Celine; Berat, Claire-Marine; Durrleman, Chloe; Espil, Caroline; Lambert, Laetitia; Meni, Cecile; Perivier, Maximilien; Pillet, Pascal; Polivka, Laura; Schiff, Manuel; Todosi, Calina; Uettwiller, Florence; Lepelley, Alice; Rice, Gillian I.; Seabra, Luis; Sanquer, Sylvia; Hulin, Anne; Pressiat, Claire; Goldwirt, Lauriane; Bondet, Vincent; Duffy, Darragh; Moshous, Despina; Bader-Meunier, Brigitte; Bodemer, Christine; Robin-Renaldo, Florence; Boddaert, Nathalie; Blanche, Stephane; Desguerre, Isabelle; Crow, Yanick J.; Neven, Benedicte Share Save
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Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2 Zhu, Gaofeng; Badonyi, Mihaly; Franklin, Lina; Seabra, Luis; Rice, Gillian I.; Anne-Boland-Auge; Deleuze, Jean-Francois; El-Chehadeh, Salima; Anheim, Mathieu; de Saint-Martin, Anne; Pellegrini, Sandra A.; Marsh, Joseph J.; Crow, Yanick; El-Daher, Marie-Therese Share Save
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