Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
作者： Gillian I Rice , Jacquelyn Bond , Aruna Asipu , Rebecca L Brunette , Iain W Manfield
DOI: 10.1038/NG.373
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摘要: 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 …
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