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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

par Rice, Gillian I;Bond, Jacquelyn;Asipu, Aruna;Brunette, Rebecca L;Manfield, Iain W;Carr, Ian M;Fuller, Jonathan C;Jackson, Richard M;Lamb, Teresa;Briggs, Tracy A;Ali, Manir;Gornall, Hannah;Couthard, Lydia R;Aeby, Alec ;Attard-Montalto, Simon P;Bertini, Enrico;Bodemer, Christine;Brockmann, Knut;Brueton, Louise A;Corry, Peter C;Desguerre, Isabelle;Fazzi, Elisa;Cazorla, Angels Garcia;Gener, Blanca ;Hamel, Ben C J;Heiberg, Arvid;Hunter, Matthew;van der Knaap, Marjo S;Kumar, Ram;Lagae, Lieven;Landrieu, Pierre G;Lourenco, Charles M;Marom, Daphna;McDermott, Michael F;van der Merwe, William;Orcesi, Simona;Prendiville, Julie S;Rasmussen, Magnhild;Shalev, Stavit A;Soler, Doriette M;Shinawi, Marwan;Spiegel, Ronen;Tan, Eng-Chye;Vanderver, Adeline;Wakeling, Emma L;Wassmer, Evangeline;Whittaker, Elizabeth;Lebon, Pierre;Stetson, Daniel B;Bonthron, David T;Crow, Yanick J
Référence Nature genetics, 41, 7, page (829-832)
Publication Publié, 2009-07

Article révisé par les pairs

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Résumé :

Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in SAMHD1 as the cause of AGS at the AGS5 locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response.