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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…
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…
Nature’s Inflammation Experiment
Familial Mediterranean fever a frequently misdiagnosed autoinflammatory disease
Cryopyrin-Associated Periodic Syndromes: Difficult to Recognize, Diagnose, Treat
Two case studies demonstrate the difficulty, delay in recognizing this rare autoinflammatory disease