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Articles tagged with "NOD2-associated auto­inflammatory disease"

Case Report: A Long, Arduous Evaluation Capped by Genetic Testing

Saud Abaalkhail, MD, Muhammad Umair Javaid, DO, & Amarie Negron Rodriguez, MD  |  February 14, 2023

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…

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Yao Syndrome: A Case Report & Clinical Review

Peter Gorevic, MD, & Qingping Yao, MD, PhD  |  November 12, 2020

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. Her temperatures were 101–103ºF, with chills lasting up…

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