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 journalArticle

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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.

Original languageEnglish
Pages (from-to)829-832
Number of pages4
JournalNature Genetics
Volume41
Issue number7
DOIs
StatePublished - Jul 1 2009
Externally publishedYes

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    Rice, G. I., Bond, J., Asipu, A., Brunette, R. L., Manfield, I. W., Carr, I. M., Fuller, J. C., Jackson, R. M., Lamb, T., Briggs, T. A., Ali, M., Gornall, H., Couthard, L. R., Aeby, A., Attard-Montalto, S. P., Bertini, E., Bodemer, C., Brockmann, K., Brueton, L. A., ... Crow, Y. J. (2009). Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nature Genetics, 41(7), 829-832. https://doi.org/10.1038/ng.373