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Abnormality of TNF receptor in autoimmune disease

自身免疫性疾病中TNF受体异常

基本信息

批准号：
18591117
负责人：
IDA Hiroaki
金额：
$ 2.49万
依托单位：
Nagasaki University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2006
资助国家：
日本
起止时间：
2006 至 2007
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18591117/
关键词：
TNF receptor TRAPS TNFRSF1A gene Hereditary periodic fever syndrome Epidemiological study 遺伝性周期性発熱症候群 monocytic fasciitis 診断基準 tacrolimus

项目摘要

One of the diseases that have an abnormal behavior in TNF receptor is TNF receptor-associated periodic syndrome (TRAPS), which is an autosomal dominant inherited disease characterized by prolonged episodes of periodic fever and localized inflammation. TRAPS patients are known to be rare in Asia. We previously reported a Japanese TRAPS patient associated with systemic lupus erythematosus (SLE)with a novel TNF receptor superfamily 1A gene (TNFRSF1A)mutation (T61I)[Rheumatology 43: 1292, 2004].We examined patients with unknown fever derived from hospitals in Japan and we surveyed TRAPS patients with TNFRSF1 A mutation according to literature and the Japanese meetings. Sixty-six patients with unknown fever were consulted for us. We examined serum levels of cytokines(TNFα, sTNFRSF1A, sTNFRSF1B, and IL-6), TNFRSF1A mutations(exon 2, 3, 4), and clinical charts to make a diagnosis of TRAPS.1)One patient was diagnosed with TRAPS (T61I mutation) and three patients were diagnosed with familial Mediterranean fever (FMF). 2) Until now 18 TRAPS patients from 7 pedigree including 5 different mutations (C30R, C30Y, T61I, C70S, C70G)had been reported in Japan. Chest pain and abdominal pain were rare clinical symptoms in the Japanese TRAPS patients. There were six sporadic cases of TRAPS without TNFRSFLA mutation in our epidemiological study. 3) We recognized unique clinical symptoms (recurrent fever, lipodystrophy, hypertrophic osteoperiostosis, skin eruptions, calcification of the basal ganglia, etc)in two cases similar to Nakajo syndrome which was reported by Dr. Atsushi Nakajo in 1939. This autosomal recessive inherited syndrome might be a new autoinflammatory syndrome.

TNF受体相关周期性综合征（TRAPS）是一种常染色体显性遗传性疾病，其特征是周期性发热和局部炎症的长期发作。TRAPS患者在亚洲非常罕见。我们先前报道了一例日本TRAPS患者伴有新的TNF受体超家族1A基因（TNFRSF 1A）突变（T61 I）[Rheumatology 43：1292，2004]，我们检查了来自日本医院的不明发热患者，并根据文献和日本会议调查了TNFRSF 1A突变的TRAPS患者。为我们咨询了66例不明原因发热患者。我们检查了血清细胞因子（TNFα、sTNFRSF 1A、sTNFRSF 1B和IL-6）、TNFRSF 1A突变（外显子2、3、4）和临床图表，以诊断TRAPS。1）1例患者被诊断为TRAPS（T61 I突变），3例患者被诊断为家族性地中海热（FMF）。2)迄今为止，日本已报道了来自7个家系的18例TRAPS患者，包括5种不同的突变（C30 R，C30 Y，T61 I，C70 S，C70 G）。胸痛和腹痛在日本TRAPS患者中是罕见的临床症状。在我们的流行病学研究中，有6例散发的TRAPS没有TNFRSFLA突变。3)我们在两个病例中发现了独特的临床症状（反复发热、脂肪营养不良、肥大性骨骨膜增生、皮疹、基底节钙化等），与1939年Atsushi Nakajo博士报告的Nakajo综合征相似。这种常染色体隐性遗传综合征可能是一种新的自身炎症综合征。