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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

par Rice, Gillian I;Forte, Gabriella M A GM;Szynkiewicz, Marcin;Chase, Diana S;Aeby, Alec ;Abdel-Hamid, Mohamed S;Ackroyd, Sam;Allcock, Rebecca;Bailey, Kathryn M;Balottin, Umberto;Barnerias, Christine;Bernard, Genevieve;Bodemer, Christine;Botella, Maria P;Cereda, Cristina;Chandler, Kate K.E.;Dabydeen, Lyvia;Dale, Russell C;De Laet, Corinne ;De Goede, Christian G E L CG;Del Toro, Mireia;Effat, Laila;Enamorado, Noemi Nunez;Fazzi, Elisa;Gener, Blanca ;Haldre, Madli;Lin, Jean-Pierre S-M JP;Livingston, John JH;Lourenco, Charles Marques;Marques, Wilson;Oades, Patrick;Peterson, Pärt;Rasmussen, Magnhild;Roubertie, Agathe;Schmidt, Johanna Loewenstein;Shalev, Stavit A;Simon, Rogelio;Spiegel, Ronen;Swoboda, Kathryn KJ;Temtamy, Samia SA;Vassallo, Grace;Vilain, Catheline ;Vogt, Julie;Wermenbol, Vanessa ;Whitehouse, William WP;Soler, Doriette M;Olivieri, I.;Orcesi, Simona;Aglan, Mona MS;Zaki, Maha S;Abdel-Salam, Ghada M H;Vanderver, Adeline;Kisand, Kai;Rozenberg, Flore;Lebon, Pierre;Crow, Yanick J
Référence Lancet neurology, 12, 12, page (1159-1169)
Publication Publié, 2013-12

Article révisé par les pairs

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Résumé :

Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials.