Abstract:
:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
journal_name
Mod Rheumatoljournal_title
Modern rheumatologyauthors
Inoue Y,Kawaguchi Y,Shimojo N,Yamaguchi K,Morita Y,Nakano T,Arima T,Tomiita M,Kohno Ydoi
10.1007/s10165-012-0720-zsubject
Has Abstractpub_date
2013-07-01 00:00:00pages
837-9issue
4eissn
1439-7595issn
1439-7609journal_volume
23pub_type
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pub_type: 杂志文章
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journal_title:Modern rheumatology
pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2003-03-01 00:00:00
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journal_title:Modern rheumatology
pub_type: 杂志文章,评审
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更新日期:2011-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1007/s10165-004-0307-4
更新日期:2004-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1080/14397595.2016.1176327
更新日期:2017-01-01 00:00:00
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pub_type: 杂志文章
doi:10.3109/s101650170043
更新日期:2001-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1080/14397595.2016.1260199
更新日期:2017-09-01 00:00:00
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journal_title:Modern rheumatology
pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.3109/14397595.2015.1054081
更新日期:2016-01-01 00:00:00
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doi:10.1007/s10165-010-0299-1
更新日期:2010-10-01 00:00:00
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pub_type: 杂志文章
doi:10.3109/s10165-003-0238-5
更新日期:2003-09-01 00:00:00
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pub_type: 杂志文章
doi:10.3109/14397595.2014.891494
更新日期:2016-01-01 00:00:00
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journal_title:Modern rheumatology
pub_type: 杂志文章
doi:10.3109/14397595.2014.970740
更新日期:2015-05-01 00:00:00
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pub_type: 杂志文章,随机对照试验
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更新日期:2014-09-01 00:00:00
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journal_title:Modern rheumatology
pub_type: 杂志文章,随机对照试验
doi:10.1080/14397595.2019.1630897
更新日期:2020-03-01 00:00:00
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journal_title:Modern rheumatology
pub_type: 杂志文章
doi:10.3109/s101650200037
更新日期:2002-09-01 00:00:00
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journal_title:Modern rheumatology
pub_type: 杂志文章,meta分析
doi:10.1080/14397595.2018.1500111
更新日期:2019-01-01 00:00:00
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journal_title:Modern rheumatology
pub_type: 杂志文章
doi:10.3109/s101650050003
更新日期:2000-06-01 00:00:00
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journal_title:Modern rheumatology
pub_type: 杂志文章
doi:10.1007/s10165-005-0398-6
更新日期:2005-01-01 00:00:00