Abstract / Description of output
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 language | English |
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Pages (from-to) | 829-32 |
Number of pages | 4 |
Journal | Nature Genetics |
Volume | 41 |
Issue number | 7 |
DOIs | |
Publication status | Published - Jul 2009 |
Keywords / Materials (for Non-textual outputs)
- Amino Acid Substitution
- Brain Diseases, Metabolic, Inborn
- Humans
- Immunity, Innate
- Monomeric GTP-Binding Proteins
- SAM Domain and HD Domain-Containing Protein 1
- Journal Article
- Research Support, Non-U.S. Gov't