期刊
NATURE GENETICS
卷 41, 期 7, 页码 829-U89出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.373
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资金
- BDF Newlife
- Royal Society
- Wellcome Trust VIP
- National Institutes for Health Research Manchester Biomedical Research Centre
- International AicardiGoutie` res syndrome Association (IAGSA)
Aicardi-Goutieres 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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