Autoimmune Polyendocrine Syndromes.
作者信息
Husebye Eystein S, Anderson Mark S, Kämpe Olle
机构信息
From the Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen (E.S.H., O.K.), and the Department of Medicine, Haukeland University Hospital (E.S.H.), Bergen, Norway; the Department of Medicine (Solna), Karolinska Institutet, Stockholm (E.S.H., O.K.); and the Diabetes Center and the Department of Medicine, University of California, San Francisco, San Francisco (M.S.A.).
出版信息
N Engl J Med. 2018 Mar 22;378(12):1132-1141. doi: 10.1056/NEJMra1713301.
Abstract
摘要
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2
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.IPEX 综合征患者接受不同治疗策略后的长期随访：一项国际多中心回顾性研究。
J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.
3
Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).自身免疫调节因子 (AIRE) 的 SAND 结构域中存在第二种更常见的变异，导致显性负性功能丧失。
J Autoimmun. 2018 Mar;88:114-120. doi: 10.1016/j.jaut.2017.10.010. Epub 2017 Nov 10.
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Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.扩大 1 型自身免疫性多内分泌腺综合征的表型和基因型谱。
J Clin Endocrinol Metab. 2017 Sep 1;102(9):3546-3556. doi: 10.1210/jc.2017-00139.
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Identification of Natural Regulatory T Cell Epitopes Reveals Convergence on a Dominant Autoantigen.天然调节性T细胞表位的鉴定揭示了在一种主要自身抗原上的趋同现象。
Immunity. 2017 Jul 18;47(1):107-117.e8. doi: 10.1016/j.immuni.2017.06.015. Epub 2017 Jul 11.
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Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome.儿童多关节炎作为自身免疫性多内分泌腺病合并念珠菌病和外胚层营养不良综合征的早期表现
Front Immunol. 2017 Apr 18;8:377. doi: 10.3389/fimmu.2017.00377. eCollection 2017.
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Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.外显子组测序揭示AIRE基因的突变是孤立性甲状旁腺功能减退症的病因。
J Clin Endocrinol Metab. 2017 May 1;102(5):1726-1733. doi: 10.1210/jc.2016-3836.
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Clinical and Immunological Characteristics of Autoimmune Addison Disease: A Nationwide Swedish Multicenter Study.自身免疫性艾迪生病的临床和免疫学特征：一项瑞典全国性多中心研究
J Clin Endocrinol Metab. 2017 Feb 1;102(2):379-389. doi: 10.1210/jc.2016-2522.
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Endocrinol Diabetes Metab Case Rep. 2016;2016. doi: 10.1530/EDM-16-0108. Epub 2016 Nov 1.
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Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.外显子组扩展测序确定 BACH2 是艾迪生病的一个新的主要风险位点。
J Intern Med. 2016 Dec;280(6):595-608. doi: 10.1111/joim.12569. Epub 2016 Nov 2.
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