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

ABSTRACT: 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.

SUBMITTER: Rice GI 

PROVIDER: S-EPMC4154505 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature