A Case of Blau Syndrome withNOD2E383K Mutation
Author:
Affiliation:
1. Department of Dermatology; Osaka General Medical Center of Medicine; Osaka Japan
2. Department of Dermatology; Wakayama Medical University; Wakayama Japan
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12908/fullpdf
Reference9 articles.
1. CARD15 mutations in Blau syndrome;Miceli-Richard;Nat Genet,2001
2. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-ĸB activation: common genetic etiology with Blau syndrome;Kanazawa;Blood,2005
3. Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis;Caso;Autoimmun Rev,2014
4. Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease;Caso;RMD Open,2015
5. Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis;Okafuji;Arthritis Rheum,2009
Cited by 13 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Proteomic Profiling of Tears in Blau Syndrome Patients in Identification of Potential Disease Biomarkers;International Journal of Molecular Sciences;2024-08-01
2. Blau Syndrome With Delayed Cutaneous Manifestations: A Case Report;The American Journal of Dermatopathology;2024-04-23
3. Anti-TNF treatment corrects IFN-γ–dependent proinflammatory signatures in Blau syndrome patient–derived macrophages;Journal of Allergy and Clinical Immunology;2022-01
4. Distinguishing Blau Syndrome from Systemic Sarcoidosis;Current Allergy and Asthma Reports;2021-02
5. Thalidomide may be an effective drug for Blau syndrome: a case report;Annals of Palliative Medicine;2021-01
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3