Ontology highlight
ABSTRACT:
SUBMITTER: Gorman JA
PROVIDER: S-EPMC5697900 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Gorman Jacquelyn A JA Hundhausen Christian C Errett John S JS Stone Amy E AE Allenspach Eric J EJ Ge Yan Y Arkatkar Tanvi T Clough Courtnee C Dai Xuezhi X Khim Socheath S Pestal Kathleen K Liggitt Denny D Cerosaletti Karen K Stetson Daniel B DB James Richard G RG Oukka Mohamed M Concannon Patrick P Gale Michael M Buckner Jane H JH Rawlings David J DJ
Nature immunology 20170529 7
The single-nucleotide polymorphism rs1990760 in the gene encoding the cytosolic viral sensor IFIH1 results in an amino-acid change (A946T; IFIH1<sup>T946</sup>) that is associated with multiple autoimmune diseases. The effect of this polymorphism on both viral sensing and autoimmune pathogenesis remains poorly understood. Here we found that human peripheral blood mononuclear cells (PBMCs) and cell lines expressing the risk variant IFIH1<sup>T946</sup> exhibited heightened basal and ligand-trigge ...[more]