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VEXAS Syndrome and Disease Taxonomy in Rheumatology.

作者信息

Grayson Peter C, Beck David B, Ferrada Marcela A, Nigrovic Peter A, Kastner Daniel L

机构信息

National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland.

Division of Rheumatology, Department of Medicine, and Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, and the National Human Genome Research Institute, NIH, Bethesda, Maryland.

出版信息

Arthritis Rheumatol. 2022 Nov;74(11):1733-1736. doi: 10.1002/art.42258. Epub 2022 Sep 15.

DOI:10.1002/art.42258
PMID:35696333
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9617773/
Abstract
摘要

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Patients with VEXAS diagnosed in a Danish tertiary rheumatology setting have highly elevated inflammatory markers, macrocytic anaemia and negative autoimmune biomarkers.在丹麦三级风湿病诊疗机构中被诊断为VEXAS的患者,炎症标志物水平极高,有大细胞性贫血且自身免疫生物标志物呈阴性。
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Intractable Rare Dis Res. 2023 Aug;12(3):170-179. doi: 10.5582/irdr.2023.01020.
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本文引用的文献

1
Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience.成功进行 VEXAS 综合征患者的异基因造血干细胞移植:来自 2 个中心的经验。
Blood Adv. 2022 Feb 8;6(3):998-1003. doi: 10.1182/bloodadvances.2021004749.
2
Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients.VEXAS综合征临床及实验室特征的进一步描述:对116例法国患者的多中心病例系列进行大规模分析
Br J Dermatol. 2022 Mar;186(3):564-574. doi: 10.1111/bjd.20805. Epub 2021 Nov 28.
3
Clinical Heterogeneity of the VEXAS Syndrome: A Case Series.VEXAS综合征的临床异质性:病例系列
Mayo Clin Proc. 2021 Oct;96(10):2653-2659. doi: 10.1016/j.mayocp.2021.06.006. Epub 2021 Sep 3.
4
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.由于UBA1体细胞突变导致的VEXAS综合征患者的良性和恶性血液学表现。
Blood Adv. 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976.
5
VEXAS syndrome.VEXAS 综合征。
Blood. 2021 Jul 1;137(26):3591-3594. doi: 10.1182/blood.2021011455.
6
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.UBA1 体细胞突变定义了 VEXAS 相关复发性多软骨炎的一个独特亚组患者。
Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. doi: 10.1002/art.41743. Epub 2021 Aug 31.
7
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.UBA1 中的新型种系突变导致 VEXAS 综合征。
Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286.
8
Therapeutic options in VEXAS syndrome: insights from a retrospective series.VEXAS综合征的治疗选择:来自一项回顾性系列研究的见解
Blood. 2021 Jul 1;137(26):3682-3684. doi: 10.1182/blood.2020010177.
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Somatic Mutations in and Severe Adult-Onset Autoinflammatory Disease.和严重成人发病的自身炎症性疾病中的体细胞突变。
N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27.
10
Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.常见的遗传易感性基因座将家族性周期性发热综合征、贝赫切特病和复发性阿弗他口炎联系起来。
Proc Natl Acad Sci U S A. 2020 Jun 23;117(25):14405-14411. doi: 10.1073/pnas.2002051117. Epub 2020 Jun 9.