变异型施尼茨勒综合征患者中NLRP3突变的髓系谱系限制性体细胞嵌合现象。 - Suppr

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.

作者信息

de Koning Heleen D, van Gijn Mariëlle E, Stoffels Monique, Jongekrijg Johanna, Zeeuwen Patrick L J M, Elferink Martin G, Nijman Isaac J, Jansen Patrick A M, Neveling Kornelia, van der Meer Jos W M, Schalkwijk Joost, Simon Anna

机构信息

Department of Dermatology, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands; Nijmegen Center for Immunodeficiency and Autoinflammation, Nijmegen, The Netherlands.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

出版信息

J Allergy Clin Immunol. 2015 Feb;135(2):561-4. doi: 10.1016/j.jaci.2014.07.050. Epub 2014 Sep 16.

DOI:10.1016/j.jaci.2014.07.050

PMID:25239704

Abstract

摘要

相似文献

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.变异型施尼茨勒综合征患者中NLRP3突变的髓系谱系限制性体细胞嵌合现象。

J Allergy Clin Immunol. 2015 Feb;135(2):561-4. doi: 10.1016/j.jaci.2014.07.050. Epub 2014 Sep 16.

Genetic predisposition (NLRP3 V198M mutation) for IL-1-mediated inflammation in a patient with Schnitzler syndrome.施尼茨勒综合征患者中IL-1介导炎症的遗传易感性（NLRP3 V198M突变）

J Allergy Clin Immunol. 2010 Feb;125(2):500-2. doi: 10.1016/j.jaci.2009.10.066.

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.简报：由髓系细胞受限性体细胞 NLRP3 镶嵌性导致的晚发性 Cryopyrin 相关周期性综合征。

Arthritis Rheumatol. 2016 Dec;68(12):3035-3041. doi: 10.1002/art.39770.

Absence of NLRP3 somatic mutations and VEXAS-related UBA1 mutations in a large cohort of patients with Schnitzler syndrome.一大群施尼茨勒综合征患者中无NLRP3体细胞突变和VEXAS相关的UBA1突变。

Allergy. 2022 Nov;77(11):3435-3436. doi: 10.1111/all.15411. Epub 2022 Jun 25.

Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.21 例 Schnitzler 综合征患者的分子遗传学研究、临床特征及治疗反应。

Blood. 2018 Mar 1;131(9):974-981. doi: 10.1182/blood-2017-10-810366. Epub 2017 Dec 28.

Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome.骨髓增殖性肿瘤伴寒冷性自身炎症综合征患者中 MYD88 L265P、罕见 NLRP3 变异体和克隆性造血的探索性研究。

Arthritis Rheumatol. 2019 Dec;71(12):2121-2125. doi: 10.1002/art.41030. Epub 2019 Oct 14.

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.一种体细胞NLRP3突变作为慢性婴儿神经、皮肤、关节综合征/新生儿期起病的多系统炎症性疾病散发病例的病因：低水平嵌合作为孟德尔遗传病潜在病理生理机制作用的新证据。

Arthritis Rheum. 2010 Apr;62(4):1158-66. doi: 10.1002/art.27342.

Schnitzler syndrome and Schnitzler-like syndromes.希氏综合征及希氏样综合征

Chin Med J (Engl). 2022 May 20;135(10):1190-1202. doi: 10.1097/CM9.0000000000002015.

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.简报：由髓系细胞受限的体细胞 NLRP3 突变引起的 cryopyrin 相关周期性综合征。

Arthritis Rheumatol. 2015 Sep;67(9):2482-6. doi: 10.1002/art.39190.

Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing.利用大规模平行测序技术以 >99.9%的统计置信度检测 NLRP3 基因的碱基替换型体细胞镶嵌现象。

DNA Res. 2012 Apr;19(2):143-52. doi: 10.1093/dnares/dsr047. Epub 2012 Jan 24.

引用本文的文献

Case report: Therapeutic use of bortezomib in a patient with Schnitzler syndrome.病例报告：硼替佐米对施尼茨勒综合征患者的治疗应用

Front Immunol. 2025 Jan 28;16:1520470. doi: 10.3389/fimmu.2025.1520470. eCollection 2025.

Background and Clinical Features of a Unique and Mysterious Autoinflammatory Disease, Schnitzler Syndrome.一种独特且神秘的自身炎症性疾病——施尼茨勒综合征的背景与临床特征

Int J Mol Sci. 2025 Jan 12;26(2):598. doi: 10.3390/ijms26020598.

Schnitzler Syndrome: Insights into Its Pathogenesis, Clinical Manifestations, and Current Management.施尼茨勒综合征：发病机制、临床表现及当前治疗方法的研究进展。

Biomolecules. 2024 May 31;14(6):646. doi: 10.3390/biom14060646.

Case report: Schnitzler-like syndrome without monoclonal gammopathy.病例报告：无单克隆丙种球蛋白血症的 Schnitzler 样综合征。

Front Immunol. 2023 Mar 30;14:1166620. doi: 10.3389/fimmu.2023.1166620. eCollection 2023.

Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives.先天性免疫缺陷中的体体细胞嵌合现象：当前的知识、挑战和未来展望。

Semin Immunol. 2023 May;67:101761. doi: 10.1016/j.smim.2023.101761. Epub 2023 Apr 14.

Canakinumab leads to rapid reduction of neutrophilic inflammation and long-lasting response in Schnitzler syndrome.卡那单抗可使 Schnitzler 综合征患者的中性粒细胞炎症迅速减轻，并产生持久疗效。

Front Med (Lausanne). 2023 Mar 15;10:1050230. doi: 10.3389/fmed.2023.1050230. eCollection 2023.

Dermatologic Manifestations of Noninflammasome-Mediated Autoinflammatory Diseases.非炎性小体介导的自身炎症性疾病的皮肤表现

JID Innov. 2022 Dec 16;3(2):100176. doi: 10.1016/j.xjidi.2022.100176. eCollection 2023 Mar.

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.基于三联体的全外显子组测序在疑似散发的先天性免疫缺陷患者中的应用：一项回顾性队列研究。

Elife. 2022 Oct 17;11:e78469. doi: 10.7554/eLife.78469.

IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.白细胞介素-1 与自体炎症性疾病：生物学、发病机制与治疗靶点

Nat Rev Rheumatol. 2022 Aug;18(8):448-463. doi: 10.1038/s41584-022-00797-1. Epub 2022 Jun 21.

Systemic Autoinflammatory Diseases: A Growing Family of Disorders of Overlapping Immune Dysfunction.系统性自身炎症性疾病：一类具有重叠免疫功能障碍的不断扩展的疾病家族。

Rheum Dis Clin North Am. 2022 Feb;48(1):371-395. doi: 10.1016/j.rdc.2021.07.011.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献