Clinical cases with mutations in RIG-I and MDA5 have distinct autoimmune presentations, with RIG-I mutations being associated with atypical Singleton-Merten Syndrome, while MDA5 mutations have been linked to classical Singleton-Merten Syndrome, Aicardi-Goutières syndrome, Systemic Lupus Erythematosus, Type 1 Diabetes and Graves disease (43, 44) (Figure 2). This evidence concerns the gene RIGI and systemic lupus erythematosus.