Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Nat Genet 2009 Jul 14;41(7):829-32. Epub 2009 Jun 14.

Academic Unit of Medical Genetics, University of Manchester, Manchester, UK.

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.

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http://dx.doi.org/10.1038/ng.373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154505PMC
July 2009
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