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Title:Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome
Authors:ID Kačar, Mark, Klinika Golnik (Author)
ID Pathak, Shelly (Author)
ID Savic, Sinisa (Author)
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MD5: 0EB0890F5B746E42755C5B4BE85942FA
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Typology:1.02 - Review Article
Organization: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
Publication status:Published
Publication version:Version of Record
Place of publishing:Velika Britanija
Publisher:Oxford University Press
Year of publishing:2019
Number of pages:str. vi31-vi43
Numbering:Vol. 58, suppl. 6
PID:20.500.12556/DiRROS-13874 New window
ISSN on article:1462-0332
DOI:10.1093/rheumatology/kez448 New window
COBISS.SI-ID:58561539 New window
Copyright:© The Author(s) 2019
Note:Nasl. z nasl. zaslona; Opis vira z dne 7. 4. 2021;
Publication date in DiRROS:08.04.2021
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Record is a part of a journal

Shortened title:Rheumatol.
Publisher:Oxford University Press
COBISS.SI-ID:515393817 New window


License:CC BY-NC 4.0, Creative Commons Attribution-NonCommercial 4.0 International
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

Secondary language

Keywords:pirin, Schnitzlerjev sindrom, haploinsuficienca, avtovnetne bolezni, s pirinom povezane avtovnetne bolezni, z NLRP3 povezane avtovnetne bolezni, relopatije