| Naslov: | Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome |
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| Avtorji: | ID Kačar, Mark, Klinika Golnik (Avtor)
ID Pathak, Shelly (Avtor)
ID Savic, Sinisa (Avtor) |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (455,31 KB)
MD5: 0EB0890F5B746E42755C5B4BE85942FA
 URL - Izvorni URL, za dostop obiščite https://academic.oup.com/rheumatology/article-pdf/58/Supplement_6/vi31/31139742/kez448.pdf
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.02 - Pregledni znanstveni članek |
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| Organizacija: |  UKPBAG - Univerzitetna klinika za pljučne bolezni in alergijo Golnik
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| Povzetek: | 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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| Ključne besede: | pyrin, Schnitzler syndrome, haploinsufficiency, autoinflammatory diseases, pyrin-associated autoinflammatory diseases, NLRP3-related autoinflammatory diseases, undifferentiated systemic autoinflammatory disease, relopathies |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Kraj izida: | Velika Britanija |
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| Založnik: | Oxford University Press |
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| Leto izida: | 2019 |
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| Št. strani: | str. vi31-vi43 |
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| Številčenje: | Vol. 58, suppl. 6 |
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| PID: | 20.500.12556/DiRROS-13874  |
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| UDK: | 616-002 |
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| ISSN pri članku: | 1462-0332 |
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| DOI: | 10.1093/rheumatology/kez448 |
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| COBISS.SI-ID: | 58561539 |
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| Avtorske pravice: | © The Author(s) 2019 |
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| Opomba: | Nasl. z nasl. zaslona;
Opis vira z dne 7. 4. 2021;
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| Datum objave v DiRROS: | 08.04.2021 |
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| Število ogledov: | 1620 |
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| Število prenosov: | 1199 |
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| Metapodatki: |    |
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