From gene to disease; tumor necrosis factor receptor and a syndrome of familial periodic fever

Simon, A.; Drenth, J.P.; van der Meer, J.W.; Simon, A; Drenth, J.P; van der Meer, J.W

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From gene to disease; tumor necrosis factor receptor and a syndrome of familial periodic fever

Simon, A.; Drenth, J.P.; van der Meer, J.W.

Nederlands Tijdschrift Voor Geneeskunde 145(2): 77-78

2001

ISSN/ISBN: 0028-2162

PMID: 11225261

Document Number: 539069

Familial Hibernian fever (FHF) is a rare hereditary syndrome that causes periodic attacks of fever and inflammation. It is an autosomal dominantly inherited disorder. The gene involved in FHF encodes for a receptor for tumour necrosis factor (TNFR1). These mutations are thought to result in impaired shedding of the receptor from the cell membrane, leading to deficient curtailing of the inflammatory reaction. The acronym TRAPS (TNF-receptor associated periodic syndrome) has been proposed as a more accurate name.