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首页> 外文期刊>Modern rheumatology >Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family.
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Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family.

机译：日本家庭中具有C30R突变的肿瘤坏死因子受体相关的周期性综合征。

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In 1999, tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) was described as an autoin-flammatory syndrome characterized by periodic fever, rashes, abdominal pain, myalgia, periorbital edema, and arthritis, strongly associated with heterozygous mutations in the gene encoding TNF receptor type 1 (TNFRSF1A).] Tumor necrosis factor-a exerts its many proinflammatory effects through two distinct receptors: TNFRSF1A (TNFR1, p55/ p60-TNFR) and TNFRSF1B (TNFR2, p75/p80-TNFR).. TRAPS is associated with substitution of amino acids in the extracellular domain of TNFRSF1A. The TNFRSF1A gene mutations were at first thought to be associated with dysregulation of shedding of TNFRSF1A,12 and it was recently reported that the mutations may spontaneously induce the alternative signaling, independent of binding of TNF-alpha.. It is believed that TRAPS is a rare disease in Japanese individuals. Only three families with TRAPS have been reported before 2006: the families had the C70S muta-Uion,T61I mutation, and C30Y mutation We eacoun-tered a TRAPS family with substitution of the 30th amino add of TNFRSF1A, cysteine to arginine (C30R) The non-synonymous change resulted from a single-nucleotide mutation, T to C at +7876bp from the transcription start site of the TNFRSF1A gene (NCBI: AY131997) (Fig, 1A), which has never been found in Japanese individuals.
机译：在1999年，肿瘤坏死因子（TNF）受体相关的周期性综合征（TRAPS）被描述为一种自发性炎症综合征，其特征是周期性发热，皮疹，腹痛，肌痛，眶周水肿和关节炎，与该病的杂合突变密切相关。编码1型TNF受体的基因。与TNFRSF1A的细胞外结构域中的氨基酸取代有关。最初认为TNFRSF1A基因突变与TNFRSF1A脱落的失调有关[12]，最近有报道说，该突变可能自发地诱导了替代信号传导，而与TNF-α的结合无关。日本人罕见的疾病。在2006年之前，仅报道了三个带有TRAPS的家族：这些家族具有C70S突变，U61，T61I和C30Y突变。我们建立了一个TRAPS家族，将TNFRSF1A，半胱氨酸的30个氨基添加为精氨酸（C30R）。非同义变化是由单核苷酸突变导致的，该突变是从TNFRSF1A基因（NCBI：AY131997）的转录起始位点开始，在+ 7876bp处从T到C（图1A），这在日本人中从未发现过。

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