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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,…
VEXAS: A Newly Identified & Vexing Myeloid-Driven Inflammation
A large, international team of rheumatologists, geneticists, hematologists and other researchers has discovered a severe inflammatory syndrome linked to an acquired genetic mutation in the bone marrow of older men. The X-linked syndrome, they found, is caused by a somatic mutation in myeloid stem cells that hobbles the master regulator of a pathway tasked with…
Somatic Mosaicism Can Complicate Diagnosis of Autoimmune Disease
New methods of gene sequencing have resulted in improved identification of mutations in patients and increased availability of genetic testing in rare diseases. Despite these exciting advances, a majority of patients lack identifiable mutations and the underlying disease etiology remains an enigma. Somatic mosaicism (SM) may be an explanation for some of these clinically challenging…