Abstract
A new study shows that gain-of-function mutations in IFIH1, which encodes the cytosolic double-stranded RNA sensor MDA5, lead to upregulated type I interferon responses. Individuals with these mutations exhibit phenotypes consistent with autoimmune diseases, including Aicardi-Goutières syndrome and systemic lupus erythematosus.
Original language | English |
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Pages (from-to) | 418-419 |
Number of pages | 2 |
Journal | Nature Genetics |
Volume | 46 |
Issue number | 5 |
DOIs | |
State | Published - May 2014 |