Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment

Cosima Tatiana Baldari; Francesca Fanti; Franco Laghi Pasini; Gabriele Simonini; Luca Cantarini; Maurizio De Martino; Mauro Galeazzi; Orso Maria Lucherini; Rolando Cimaz

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Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment

机译：TNFRSF1A基因罕见突变引起的与肿瘤坏死因子受体相关的周期性综合征，对依那西普治疗的反应良好

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来源
《Clinical and experimental rheumatology 》 |2009年第5期| 共页
作者
Cosima Tatiana Baldari; Francesca Fanti; Franco Laghi Pasini; Gabriele Simonini; Luca Cantarini; Maurizio De Martino; Mauro Galeazzi; Orso Maria Lucherini; Rolando Cimaz;
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中图分类免疫性疾病 ;
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1. Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment [J] . CantariniL., LucheriniO.M., GaleazziM., Clinical and experimental rheumatology . 2009 ,第5期

机译：TNFRSF1A基因罕见突变引起的与肿瘤坏死因子受体相关的周期性综合征，对依那西普治疗的反应良好
2. Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. [J] . Stojanov S, Dejaco C, Lohse P, Annals of the Rheumatic Diseases: A Journal of Clinical Rheumatology and Connective Tissue Research . 2008 ,第9期

机译：新型TNFRSF1A c.605T> A / V173D裂解位点突变与肿瘤坏死因子受体相关的周期性发热综合征（TRAPS），心血管并发症以及对依那西普治疗的出色反应相关的临床和功能表征。
3. A novel missense mutation in tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene found in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with high serum interleukin (IL)-22. [J] . Nakamura M, Tokura Y European journal of dermatology: EJD . 2010 ,第4期

机译：新型肿瘤坏死因子受体超家族1A（TNFRSF1A）基因中的新型错义突变在高血清白介素（IL）-22的肿瘤坏死因子受体相关周期性综合征（TRAPS）中发现。
4. TNFRSF1A MUTATIONS IN ITALIAN PATIENTS AFFECTED BY APPARENTLY SPORADIC PERIODIC FEVER SYNDROME [C] . L Obici, S. Marciano, G. Palladini, International Symposium on Amyloidosis . 2005

机译：受明显散发性周期性发烧综合征影响的意大利患者的TNFRSF1A突变
5. Autoinflammation in the TNF Receptor-Associated Periodic Syndrome (TRAPS): Pathophysiology and Implications for Treatment. [D] . Bulua, Ariel C. 2011

机译：TNF受体相关周期性综合征（TRAPS）中的自发炎症：病理生理学和治疗意义。
6. Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis [O] . A Caminero, M Comabella, X Montalban 2011

机译：肿瘤坏死因子（TNF）-α和TNFRSF1A R92Q突变在TNF受体相关周期性综合征和多发性硬化症的发病机制中的作用
7. Clinical and functional characterisation of a novel TNFRSF1A c.605T > A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. [O] . Stojanov S., Dejaco C., Lohse Peter, 2008

机译：新型TNFRsF1a c.605T> a / V173D切割位点突变的临床和功能表征与肿瘤坏死因子受体相关的周期性发热综合征（TRaps），心血管并发症和对依那西普治疗的优异反应相关。

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Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment

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