Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response.
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ABSTRACT:
SUBMITTER: Rice GI
PROVIDER: S-EPMC4154505 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Publications
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice Gillian I GI Bond Jacquelyn J Asipu Aruna A Brunette Rebecca L RL Manfield Iain W IW Carr Ian M IM Fuller Jonathan C JC Jackson Richard M RM Lamb Teresa T Briggs Tracy A TA Ali Manir M Gornall Hannah H Couthard Lydia R LR Aeby Alec A Attard-Montalto Simon P SP Bertini Enrico E Bodemer Christine C Brockmann Knut K Brueton Louise A LA Corry Peter C PC Desguerre Isabelle I Fazzi Elisa E Cazorla Angels Garcia AG Gener Blanca B Hamel Ben C J BC Heiberg Arvid A Hunter Matthew M Hunter Matthew M van der Knaap Marjo S MS Kumar Ram R Lagae Lieven L Landrieu Pierre G PG Lourenco Charles M CM Marom Daphna D McDermott Michael F MF van der Merwe William W Orcesi Simona S Prendiville Julie S JS Rasmussen Magnhild M Shalev Stavit A SA Soler Doriette M DM Shinawi Marwan M Spiegel Ronen R Tan Tiong Y TY Vanderver Adeline A Wakeling Emma L EL Wassmer Evangeline E Whittaker Elizabeth E Lebon Pierre P Stetson Daniel B DB Bonthron David T DT Crow Yanick J YJ
Nature genetics 20090614 7
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 ...[more]
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