Mutations/polymorphisms in a monogenetic autoinflammatory disease may be susceptibility markers for certain rheumatic diseases: lessons from the bedside for the benchside.
Certain vasculitides have an increased prevalence among patients with familial Mediterranean fever (FMF). Subsequently, it was noticed that patients with certain rheumatic diseases had an increased carrier rate for mutations in the MEFV gene including seronegative spondyloarhtropatheis, Henoch Schönlein purpura, polyarteritis nodosa and some forms of juvenile idiopathic arthritis. Furthermore in populations where the disease is rare, certain polymorphisms have been associated with a severe inflammatory complication in arthritis. The effect of these polymorphisms are probably through the upregulation of the innate immune system which serves as the initial response to the environmental trigger. It may be suggested for the aforementioned clinical associations that mutations/polymorphisms in the MEFV gene may well be susceptibility factors for the disease or a more severe course of the disease for a number of rheumatic diseases.
Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey. sezaozen@hacettepe.edu.tr
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D001327:Autoimmune Diseases / Q000150:complications / Q000235:genetics* / Q000276:immunology; D015415:Biomarkers; D003598:Cytoskeletal Proteins / Q000235:genetics*; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D000071198:Pyrin; D012216:Rheumatic Diseases / Q000150:complications / Q000235:genetics* / Q000276:immunology; D015854:Up-Regulation; D014657:Vasculitis / Q000150:complications / Q000235:genetics* / Q000276:immunology
D015415:Biomarkers; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin