Familial Mediterranean fever (FMF) is a severe, autosomal recessive autoinflammatory disease caused by mutations in the MEFV gene encoding pyrin, which spontaneously activates inflammasomes.
La fiebre mediterránea familiar (FMF) es una enfermedad autoinflamatoria severa, autosómica recesiva, causada por mutaciones en el gen MEFV que codifica la pirina, la cual activa espontáneamente los inflamosomas.
Front | A severe autoinflammatory disease, inherited as an autosomal recessive disorder. It is caused by mutation in the gene , MEFV, that encodes the protein pyrin, which is expressed in granulocytes and monocytes. In patients with this disorder, defective pyrin is thought to spontaneously activate inflammasomes |
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Back | familial Mediterranean fever FMF |
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