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Pt w/ severe systemic JIA & recurrent macrophage activation syndr underwent whole exome sequencing & found to have gain in function CASP1 variant leading to inflammasome & NF-κB hyperactivation (hi IL-6, IL-1β IL-18, IFNγ) Rx w/ IL-1 & IL-6 inhib https://t.co/SE3p5CTEak
Dr. John Cush
Jun-24-2020
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