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A recent study conducted at Boston Children's Hospital aimed to identify diagnostic markers that can distinguish Kawasaki disease (KD) from other pediatric inflammatory diseases. The researchers used a proximity extension assay to analyze plasma samples from various patient groups and found that elevation of interleukin-17 (IL-17) cytokines, particularly IL-17A, was a distinguishing factor in KD. This elevation was observed in over 50% of KD patients, including those with coronary artery aneurysms. The findings suggest that IL-17 cytokines could serve as a hallmark for differentiating KD from its clinical mimics. [Extracted from the article]

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]