Access

Letter

Nature Genetics 41, 829–832 (1 July 2009) | doi:10.1038/ng.373

Mutations involved in Aicardi-Gouti|[egrave]|res syndrome implicate SAMHD1 as regulator of the innate immune response

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

Aicardi-Gouti|[egrave]|res 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.