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

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

  • Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373.
Gillian I Rice 1,  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
Affiliations

Affiliation

  • 1 Academic Unit of Medical Genetics, University of Manchester, Manchester, UK.
PMID: 19525956 DOI: 10.1038/ng.373
Abstract

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.

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