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本文引用的文献

1
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.杂合截断变异体逃避无义介导的衰变并导致独特的免疫调节不良综合征。
Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24.
2
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.巴瑞替尼治疗自身炎症性干扰素病的 JAK1/2 抑制作用。
J Clin Invest. 2018 Jul 2;128(7):3041-3052. doi: 10.1172/JCI98814. Epub 2018 Jun 11.
3
How I treat autoimmune hemolytic anemia.我如何治疗自身免疫性溶血性贫血。
Blood. 2017 Jun 1;129(22):2971-2979. doi: 10.1182/blood-2016-11-693689. Epub 2017 Mar 30.
4
Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus.孟德尔干扰素病的见解：CANDLE、SAVI与AGS、单基因狼疮的比较
J Mol Med (Berl). 2016 Oct;94(10):1111-1127. doi: 10.1007/s00109-016-1465-5. Epub 2016 Sep 27.
5
Genetics of autoimmune diseases: perspectives from genome-wide association studies.自身免疫性疾病的遗传学：全基因组关联研究的视角
Int Immunol. 2016 Apr;28(4):155-61. doi: 10.1093/intimm/dxw002. Epub 2016 Feb 8.
6
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.CANDLE/PRAAS患者中功能丧失性蛋白酶体亚基的累加突变促进I型干扰素的产生。
J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20.
7
Dysfunction in protein clearance by the proteasome: impact on autoinflammatory diseases.蛋白酶体蛋白清除功能障碍：对自身炎症性疾病的影响。
Semin Immunopathol. 2015 Jul;37(4):323-33. doi: 10.1007/s00281-015-0486-4. Epub 2015 May 12.
8
Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.基因明确的自身炎症性疾病中的分子机制：危险信号放大紊乱
Annu Rev Immunol. 2015;33:823-74. doi: 10.1146/annurev-immunol-032414-112227. Epub 2015 Feb 20.
9
CANDLE syndrome: a recently described autoinflammatory syndrome.坎德尔综合征：一种最近被描述的自身炎症性综合征。
J Pediatr Hematol Oncol. 2015 May;37(4):296-9. doi: 10.1097/MPH.0000000000000212.
10
Role of type I interferons in the activation of autoreactive B cells.I 型干扰素在自身反应性 B 细胞激活中的作用。
Immunol Cell Biol. 2012 May;90(5):498-504. doi: 10.1038/icb.2012.10. Epub 2012 Mar 20.

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.

DOI:10.1016/j.jaci.2018.12.1012
PMID:30664889
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6565382/
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。