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A study conducted at Boston Children's Hospital aimed to understand the genetic basis of autoimmune diseases in a family with multiple manifestations, including systemic lupus erythematosus (SLE), immune thrombocytopenia, and autoimmune thyroiditis. The researchers identified two genetic variants in the Suppressor of cytokine signaling 1 (SOCS1) gene that were predicted to be benign individually but had deleterious consequences when expressed together. These variants led to decreased binding of the mutant SOCS1 protein to Janus kinases (JAK) and reduced inhibition of type I interferon (IFN-I) signaling, resulting in heightened sensitivity to IFN-I stimulation and defective regulation of IFN-I signaling. The study highlights the importance of fine-tuning IFN-I signaling by SOCS1 to prevent autoimmunity. [Extracted from the article]