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Genetic analysis for autoinflammatory disease may reveal sequence changes of uncertain clinical significance. We describe investigation of a 26 year old with unexplained inflammatory symptoms with a novel intronic change in TNFRSF1A (intron 4 c.472+88 C>A) by examining reverse-phase protein microarray. In addition we describe clinical symptoms and response to anakinra and etanercept.

OR13-005 – Investigation of clinical and laboratory significance of TNFRSF1A intron by reverse-phase protein microarray