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47. Autoinflammatory Disease

ACR on Air

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The Gene That Regulates IL1 in Autoinflamatory Diseases

We wrote a paper for current opinion and immunology in which we speculated on all of the different known diseases, that maybe are autoinflamatory. We didn't have any idea what the molecular mechanism of them would be. A year later, Hal Hoffman at University of California, San Diego, comes out with this paper on Muckle Well syndrome and familial cold urticaria. And it turns out that he found the gene that's mutated in those two diseases,. In part by virtue of the fact that the gene has a pyran domain. It has a domain in common with the FMF gene. There was even one IL1 inhibitor on the market that one could test in patients that

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