Mutations involved in Aicardi-Goutières 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 CorryIsabelle 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

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.

Original languageEnglish
Pages (from-to)829-32
Number of pages4
JournalNature Genetics
Volume41
Issue number7
DOIs
Publication statusPublished - Jul 2009

Keywords / Materials (for Non-textual outputs)

  • Amino Acid Substitution
  • Brain Diseases, Metabolic, Inborn
  • Humans
  • Immunity, Innate
  • Monomeric GTP-Binding Proteins
  • SAM Domain and HD Domain-Containing Protein 1
  • Journal Article
  • Research Support, Non-U.S. Gov't

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