Title: Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Authors: Rice, Gillian I ×
Bond, Jacquelyn
Asipu, Aruna
Brunette, Rebecca L
Manfield, Iain W
Carr, Ian M
Fuller, Jonathan C
Jackson, Richard M
Lamb, Teresa
Briggs, Tracy A
Ali, Manir
Gornall, Hannah
Couthard, Lydia R
Aeby, Alec
Attard-Montalto, Simon P
Bertini, Enrico
Bodemer, Christine
Brockmann, Knut
Brueton, Louise A
Corry, Peter C
Desguerre, Isabelle
Fazzi, Elisa
Cazorla, Angels Garcia
Gener, Blanca
Hamel, Ben C J
Heiberg, Arvid
Hunter, Matthew
van der Knaap, Marjo S
Kumar, Ram
Lagae, Lieven
Landrieu, Pierre G
Lourenco, Charles M
Marom, Daphna
McDermott, Michael F
van der Merwe, William
Orcesi, Simona
Prendiville, Julie S
Rasmussen, Magnhild
Shalev, Stavit A
Soler, Doriette M
Shinawi, Marwan
Spiegel, Ronen
Tan, Tiong Y
Vanderver, Adeline
Wakeling, Emma L
Wassmer, Evangeline
Whittaker, Elizabeth
Lebon, Pierre
Stetson, Daniel B
Bonthron, David T
Crow, Yanick J #
Issue Date: Jul-2009
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:41 issue:7 pages:829-32
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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Brain & Metabolism Section (-)
× corresponding author
# (joint) last author

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