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.
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Miner, J., Diamond, M. MDA5 and autoimmune disease. Nat Genet 46, 418–419 (2014). https://doi.org/10.1038/ng.2959
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DOI: https://doi.org/10.1038/ng.2959
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