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[从基因到疾病;肿瘤坏死因子受体与一种家族性周期性发热综合征]

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

作者信息

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

机构信息

Afd. Algemene Interne Geneeskunde, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen.

出版信息

Ned Tijdschr Geneeskd. 2001 Jan 13;145(2):77-8.

PMID:11225261
Abstract

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.

摘要

家族性爱尔兰热(FHF)是一种罕见的遗传性综合征,可引起周期性发热和炎症发作。它是一种常染色体显性遗传疾病。与FHF相关的基因编码肿瘤坏死因子受体(TNFR1)。这些突变被认为会导致该受体从细胞膜上的脱落受损,从而导致炎症反应的抑制不足。有人提出用首字母缩写词TRAPS(肿瘤坏死因子受体相关周期性综合征)作为更准确的名称。

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