Abstract
The familial Mediterranean fever (FMF, OMIM 249100) is an autosomal recessive auto-inflammatory disease primarily occuring in Armenian, Turkish, Jewish and Arabic populations. The first clinical symptoms of FMF usually appear in childhood. The chronic relapsing inflammation of the serous membranes leads to febrile attacks often associated with abdominal, joint and/or chest pains. The most common mutations associated with FMF were identified in exon 10 of MEFV located on the short arm of chromosome 16p13.3. MEFV consists of 10 exons and encodes for pyrin/marenostrin involved in the regulation of NLRP3-inflammasome activity.
Highlights
The familial Mediterranean fever (FMF, OMIM 249100) is an autosomal recessive auto-inflammatory disease primarily occuring in Armenian, Turkish, Jewish and Arabic populations
The first clinical symptoms of FMF usually appear in childhood
The most common mutations associated with FMF were identified in exon 10 of MEFV located on the short arm of chromosome 16p13.3
Summary
The familial Mediterranean fever (FMF, OMIM 249100) is an autosomal recessive auto-inflammatory disease primarily occuring in Armenian, Turkish, Jewish and Arabic populations. The first clinical symptoms of FMF usually appear in childhood. The chronic relapsing inflammation of the serous membranes leads to febrile attacks often associated with abdominal, joint and/or chest pains. The most common mutations associated with FMF were identified in exon 10 of MEFV located on the short arm of chromosome 16p13.3. MEFV consists of 10 exons and encodes for pyrin/marenostrin involved in the regulation of NLRP3-inflammasome activity
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