Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
- Rice, GI
- Bond, J
- Asipu, A
- Brunette, RL
- Manfield, IW
- Carr, IM
- Fuller, JC
- Jackson, RM
- Lamb, T
- Briggs, TA
- Ali, M
- Gornall, H
- Couthard, LR
- Aeby, A
- AttardMontalto, SP
- Bertini, E
- Bodemer, C
- Brockmann, K
- Brueton, LA
- Corry, PC
- Desguerre, I
- Fazzi, E
- Cazorla, AG
- Gener, B
- Hamel, BCJ
- Heiberg, A
- Hunter, M
- Van Der Knaap, MS
- Kumar, R
- Lagae, L
- Landrieu, PG
- Lourenco, CM
- Marom, D
- Mcdermott, MF
- Van Der Merwe, W
- Orcesi, S
- Prendiville, JS
- Rasmussen, M
- Shalev, SA
- Soler, DM
- Shinawi, M
- Spiegel, R
- Tan, TY
- Vanderver, A
- Wakeling, EL
- Wassmer, E
- Whittaker, E
- Lebon, P
- Stetson, DB
- Bonthron, DT
- Crow, YJ
Publication date
January 2009
DOI Publisher
Springer Science and Business Media LLC ISSN
1061-4036 Journal
Nature Genetics Citation count (estimate)
371Abstract
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. © 2009 Nature America, Inc. All rights reserved.link_to_subscribed_fulltex
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