[From gene to disease; tumor necrosis factor receptor and a syndrome of familial periodic fever].
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.
Afd. Algemene Interne Geneeskunde, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen.
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Simon
J P
JP
Drenth
J W
JW
van der Meer
D000483:Alleles; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D013577:Syndrome
D018124:Receptors, Tumor Necrosis Factor