P02-016 - A novel PSMB8 mutation causing candle syndrome
P02-016 - A novel PSMB8 mutation causing candle syndrome
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P02-016 - 导致蜡烛综合症的新型 PSMB8 突变
DOI：
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发表时间：
2013
期刊：
影响因子：
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通讯作者：
A. Insalaco
中科院分区：
文献类型：
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作者：
V. Messia;M. Pardeo;R. Nicolai;C. Bracaglia;F. D. Benedetti;A. Insalaco
慢性非典型嗜中性皮肤病伴脂肪营养不良和体温升高（CANDLE）综合征是一种新近报道的自身炎症性疾病，最近报道了9例患者。其特征是在出生后第一年内出现反复发热、紫癜性皮肤病变、关节痛、进行性脂肪营养不良、低色素性或正常红细胞性贫血、身体发育延迟和急性期反应物水平升高。
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly described autoinflammatory disease, which had been recently reported in 9 patients. It is characterized by onset during the first year of life of recurrent fevers, purpuric skin lesions, arthralgia, progressive lipodystrophy, hypochromic or normocytic anemia, delayed physical development and increased levels of acute phase reactants.
影响因子：
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作者：
Liu, Yin;Ramot, Yuval;Torrelo, Antonio;Paller, Amy S.;Si, Nuo;Babay, Sofia;Kim, Peter W.;Sheikh, Afzal;Lee, Chyi-Chia Richard;Chen, Yongqing;Vera, Angel;Zhang, Xue;Goldbach-Mansky, Raphaela;Zlotogorski, Abraham
通讯作者：
Zlotogorski, Abraham