| Title: | Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome |
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| Authors: | ID Kačar, Mark, Klinika Golnik (Author)
ID Pathak, Shelly (Author)
ID Savic, Sinisa (Author) |
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| Files: |  PDF - Presentation file, download (455,31 KB)
MD5: 0EB0890F5B746E42755C5B4BE85942FA
 URL - Source URL, visit https://academic.oup.com/rheumatology/article-pdf/58/Supplement_6/vi31/31139742/kez448.pdf
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| Language: | English |
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| Typology: | 1.02 - Review Article |
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| Organization: |  UKPBAG - University Clinic of Respiratory and Allergic Diseases Golnik
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| Abstract: | The systemic autoinflammatory diseases are disorders of the innate immune system distinguished by severe inflammation resulting from dysregulation of the innate immune system. Hereditary fever syndromes, such as FMF, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes and mevalonate kinase deficiency, were the first group of systemic autoinflammatory diseases for which a genetic basis was established, between 1999 and 2001. Currently according to the latest report of the international union of immunological societies, 37 separate monogenic disorders were classified as autoinflammatory. In addition to the abovementioned monogenic conditions, we describe Schnitzler's syndrome, a well-defined, acquired autoinflammatory condition without a clear genetic basis. For the purposes of this review, we discuss several conditions defined by the latest consensus process as systemic autoinflammatory diseases. We focus on those disorders where recent studies have contributed to further phenotypic characterization or had an impact on clinical management. |
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| Keywords: | pyrin, Schnitzler syndrome, haploinsufficiency, autoinflammatory diseases, pyrin-associated autoinflammatory diseases, NLRP3-related autoinflammatory diseases, undifferentiated systemic autoinflammatory disease, relopathies |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Place of publishing: | Velika Britanija |
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| Publisher: | Oxford University Press |
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| Year of publishing: | 2019 |
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| Number of pages: | str. vi31-vi43 |
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| Numbering: | Vol. 58, suppl. 6 |
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| PID: | 20.500.12556/DiRROS-13874  |
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| UDC: | 616-002 |
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| ISSN on article: | 1462-0332 |
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| DOI: | 10.1093/rheumatology/kez448 |
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| COBISS.SI-ID: | 58561539 |
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| Copyright: | © The Author(s) 2019 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 7. 4. 2021;
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| Publication date in DiRROS: | 08.04.2021 |
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| Views: | 1621 |
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| Downloads: | 1199 |
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