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periodic disease

Friday 21 November 2003

Synopsis

- familial paroxysmal polyserositis

Etiology

- familial Mediterranean fever (FMF) (MIM.249100) is caused by mutation in the pyrin gene (MEFV) (MIM.608107)
- autosomal dominant periodic fever is caused by mutations in the tumor necrosis factor receptor-1 gene (TNFRSF1A) (MIM.191190)

References

- McDermott MF. Genetic clues to understanding periodic fevers, and possible therapies. Trends Mol Med. 2002 Dec;8(12):550-4. PMID: 12470987

- Drenth JP, van der Meer JW. Hereditary periodic fever. N Engl J Med. 2001 Dec 13;345(24):1748-57. PMID: 11742050

- Centola M, Aksentijevich I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet. 1998;7(10):1581-8. PMID: 9735379