Cailin Sibley

Does this patient have a cryopyrin-associated periodic syndrome (CAPS)? History and symptoms The CAPS family of diseases are due to autosomal dominant gain of function mutations in NLRP3 (also known as NALP3, CIAS1 or PYPAR1) encoding the protein cryopyrin. Cryopyrin mutations lead to increased activity of the caspase-1 activating inflammasome, which results in the cleavage…

Does this patient have Familial Mediterranean Fever? History and symptoms Familial Mediterranean Fever (FMF) is an autosomal recessive condition due to mutations in MEFV, the gene that encodes pyrin, and is the most common member of the family of monogenic autoinflammatory disorders. FMF is characterized by relapsing and remitting 1-3 day episodes of fever, sterile…