新型蛋白酶体组装伴侣突变导致的 PSMG2/PAC2 自炎症干扰素病 CANDLE/PRAAS4。
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
机构信息
Translational Autoinflammatory Diseases Section, LCIM, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Charité-Universitätsmedizin Berlin CCO Institut für Biochemie, Berlin, Germany.
出版信息
J Allergy Clin Immunol. 2019 May;143(5):1939-1943.e8. doi: 10.1016/j.jaci.2018.12.1012. Epub 2019 Jan 18.
Abstract
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature (CANDLE) is a rare autoinflammatory interferonopathy caused by additive loss-of-function mutations in proteasome genes. Mutations in the proteasome chaperone, /PAC2 are a novel cause of CANDLE.
摘要
慢性非典型中性粒细胞皮肤病伴脂肪营养不良和发热（CANDLE）是一种罕见的自身炎症性干扰素病，由蛋白酶体基因的附加功能丧失性突变引起。蛋白酶体伴侣 /PAC2 的突变是 CANDLE 的一个新病因。
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