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Article

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

Nederlands tijdschrift voor geneeskunde - 13 Jan 2001

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

Abstract excerpt

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...

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PMID: 11225261

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TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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