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Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. [ 1 ] : 149 FMF is an autoinflammatory disease caused by mutations in the Mediterranean fever (MEFV) gene, which encodes a 781–amino acid protein called pyrin . [ 2 ]
Recently, it has been shown that pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients. [8] Furthermore, while the trigger of FMF flares remain unknown, steroid hormone catabolites ( pregnanolone and etiocholanaolone) have been shown to activate the pyrin inflammasome, in vitro, by ...
The most common genetic autoinflammatory syndrome is familial Mediterranean fever, which causes short episodes of fever, abdominal pain, serositis, lasting less than 72 hours. It is caused by mutations in the MEFV gene, which codes for the protein pyrin. [citation needed]
Autoinflammatory disorders consisting of 56 defective genes causing 59 diseases. These diseases include various types of autoinflammatory diseases, e.g., familial Mediterranean fever and Blau syndrome. 8). Complement deficiencies consisting of 36 defective genes causing 30 diseases.
The mutation of the MEFV gene is the cause of the disease known as Familial Mediterranean Fever. [4] The domain is encoded in 23 human proteins and at least 31 mouse genes. [5] Proteins containing a pyrin domain are frequently involved in programmed cell death processes including pyroptosis and apoptosis.
Familial Mediterranean fever. [4] ... it causes one-third of all deaths among persons with RP. ... His patient was a 32-year-old male brewer who presented with fever ...
Epidemiology of Disasters and Wars, Familial Mediterranean Fever, International Health Haroutune Armenian ( Armenian : Հարություն Արմենյան , 18 June 1942), is a Lebanese born Armenian-American academic, physician , doctor of public health (1974), Professor , President of the American University of Armenia (1997- 2009 ...
Familial Mediterranean Fever. For some patients with FMF, episodes of knee or joint inflammation may be the only presenting symptom during an acute inflammatory episode. [6] The MEFV gene mutations associated with FMF have been implicated in the pathogenesis of both palindromic rheumatism and IH.