The hereditary periodic fevers are a group of Mendelian disorders characterized by seemingly unprovoked fever and localized inflammation. Recent data indicate that these illnesses represent inborn errors in the regulation of innate immunity. Pyrin, the protein mutated in familial Mediterranean fever, defines an N-terminal domain found in a large family of proteins involved in inflammation and a...

osting by E Abstract Hereditary periodic fever syndromes, comprise a group of hereditary disorders with similar clinical features of recurrent short episodes of fever associated with inflammatory manifestations. These are usually self-limited in nature and occur in the absence of infection or autoimmune reaction. Between attacks, patients feel well and regain their normal daily functions until ...

OBJECTIVE: Familial Mediterranean fever (FMF) is the most common and best understood disease of hereditary periodic fever syndromes. Various degrees of sensorineural hearing loss can be seen in the progression of some hereditary periodic fever syndromes. There are very limited and controversial studies in the literature with regard to hearing loss in patients diagnosed with FMF. We aimed to eva...

Simon, Anna, and Jos W. M. van der Meer. Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. Am J Physiol Regul Integr Comp Physiol 292: R86–R98, 2007. First published August 24, 2006; doi:10.1152/ajpregu.00504.2006.—Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory syndromes, are inherited disorders characterized by recurr...

Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory syndromes, are inherited disorders characterized by recurrent episodes of fever and inflammation. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to very minor stimuli or turned off too late. The genetic background of the major familial perio...