Article
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
The Lancet. Neurology - 1 Dec 2013
Rice Gillian I, Forte Gabriella M A, 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 E, Dabydeen Lyvia, Dale Russell C, De Laet Corinne, De Goede Christian G E L, Del Toro Mireia, Effat Laila, Enamorado Noemi Nunez, Fazzi Elisa, Gener Blanca, Haldre Madli, Lin Jean-Pierre S-M, Livingston John H, 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 J, Temtamy Samia A, Vassallo Grace, Vilain Catheline N, Vogt Julie, Wermenbol Vanessa, Whitehouse William P, Soler Doriette, Olivieri Ivana, Orcesi Simona, Aglan Mona S, Zaki Maha S, Abdel-Salam Ghada M H, Vanderver Adeline, Kisand Kai, Rozenberg Flore, Lebon Pierre, Crow Yanick J
Abstract excerpt
BACKGROUND: 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. METHODS: In this case-control study,...
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