11 Scopus citations


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 languageEnglish
Pages (from-to)418-419
Number of pages2
JournalNature Genetics
Issue number5
StatePublished - May 2014

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