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Title:Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome
Authors:Kačar, Mark (Author)
Pathak, Shelly (Author)
Savic, Sinisa (Author)
Language:English
Tipology:1.02 - Review Article
Organisation:Logo UKPBAG - University Clinic of Respiratory and Allergic Diseases Golnik
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.
Keywords:pyrin, Schnitzler syndrome, haploinsufficiency, autoinflammatory diseases, pyrin-associated autoinflammatory diseases, NLRP3-related autoinflammatory diseases, undifferentiated systemic autoinflammatory disease, relopathies
Year of publishing:2019
Publisher:Oxford University Press
Source:Velika Britanija
COBISS_ID:58561539 Link is opened in a new window
UDC:616-002
ISSN on article:1462-0332
DOI:10.1093/rheumatology/kez448 Link is opened in a new window
Note:Nasl. z nasl. zaslona; Opis vira z dne 7. 4. 2021;
Views:433
Downloads:316
Files:.pdf PDF - Presentation file, download (455,31 KB)
URL URL - Source URL, visit https://academic.oup.com/rheumatology/article-pdf/58/Supplement_6/vi31/31139742/kez448.pdf
 
Journal:Rheumatol.
Oxford University Press
 
Metadata:XML RDF-CHPDL DC-XML DC-RDF
Rights:© The Author(s) 2019
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Licences

License:CC BY-NC 4.0, Creative Commons Attribution Non-Commercial 4.0 International
Link:http://creativecommons.org/licenses/by-nc/4.0/
Description:A creative commons license that bans commercial use, but the users don’t have to license their derivative works on the same terms.
Licensing start date:26.11.2019

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