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Case Report: A Long, Arduous Evaluation Capped by Genetic Testing
Systemic autoinflammatory diseases (SAIDs) are rare syndromes characterized by alterations in innate immunity that result in a variety of clinical manifestations that are usually associated with recurrent fevers.1 Thanks to advances in genetic sequencing over the past few years, monogenic causes for some of these autoinflammatory diseases, such as Yao syndrome, have been discovered.2 Previously…
Yao Syndrome: A Case Report & Clinical Review
Case Presentation History of present illness A 66-year-old white woman presented with unexplained, recurrent episodes of high fever, abdominal pain, rash and arthralgias occurring over the previous three years. During typical episodes, the patient experienced flu-like symptoms, followed by fever, abdominal pain and non-bloody diarrhea without tenesmus. ad goes here:advert-1ADVERTISEMENTSCROLL TO CONTINUEHer temperatures were 101–103ºF,…
Fellows’ Forum Case Report: Autoinflammatory Diseases and Roles of Genetic, Molecular Testing
A 51-year-old Caucasian female was referred by a local rheumatologist to the Center of Autoinflammatory Diseases at Stony Brook University, N.Y., for an unusual disease presentation. The patient had had recurrent polyarthritis, fever and rash for the previous three years. She described having a migratory polyarthritis affecting the shoulders, knees, ankles and bilateral forefoot, with…
Back to the Future: Spotlight on ACR Past President Dr. Herbert Kaplan
We are sad to report that Dr. Kaplan passed away on Saturday, June 23. We are reposting this story now to celebrate his life.