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Naslov:Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome
Avtorji:ID Kačar, Mark, Klinika Golnik (Avtor)
ID Pathak, Shelly (Avtor)
ID Savic, Sinisa (Avtor)
Datoteke:.pdf PDF - Predstavitvena datoteka, prenos (455,31 KB)
MD5: 0EB0890F5B746E42755C5B4BE85942FA
 
URL URL - Izvorni URL, za dostop obiščite https://academic.oup.com/rheumatology/article-pdf/58/Supplement_6/vi31/31139742/kez448.pdf
 
Jezik:Angleški jezik
Tipologija:1.02 - Pregledni znanstveni članek
Organizacija:Logo UKPBAG - Univerzitetna klinika za pljučne bolezni in alergijo Golnik
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.
Ključne besede:pyrin, Schnitzler syndrome, haploinsufficiency, autoinflammatory diseases, pyrin-associated autoinflammatory diseases, NLRP3-related autoinflammatory diseases, undifferentiated systemic autoinflammatory disease, relopathies
Status publikacije:Objavljeno
Verzija publikacije:Objavljena publikacija
Kraj izida:Velika Britanija
Založnik:Oxford University Press
Leto izida:2019
Št. strani:str. vi31-vi43
Številčenje:Vol. 58, suppl. 6
PID:20.500.12556/DiRROS-13874 Novo okno
UDK:616-002
ISSN pri članku:1462-0332
DOI:10.1093/rheumatology/kez448 Novo okno
COBISS.SI-ID:58561539 Novo okno
Avtorske pravice:© The Author(s) 2019
Opomba:Nasl. z nasl. zaslona; Opis vira z dne 7. 4. 2021;
Datum objave v DiRROS:08.04.2021
Število ogledov:1866
Število prenosov:1345
Metapodatki:XML DC-XML DC-RDF
:
KAČAR, Mark, PATHAK, Shelly in SAVIC, Sinisa, 2019, Hereditary systemic autoinflammatory diseases and Schnitzler’s syndrome. Rheumatology [na spletu]. 2019. Vol. 58, no. suppl. 6, p. vi31–vi43. [Dostopano 28 april 2025]. DOI 10.1093/rheumatology/kez448. Pridobljeno s: https://dirros.openscience.si/IzpisGradiva.php?lang=slv&id=13874
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Gradivo je del revije

Naslov:Rheumatology
Skrajšan naslov:Rheumatol.
Založnik:Oxford University Press
ISSN:1462-0332
COBISS.SI-ID:515393817 Novo okno

Licence

Licenca:CC BY-NC 4.0, Creative Commons Priznanje avtorstva-Nekomercialno 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by-nc/4.0/deed.sl
Opis:Licenca Creative Commons, ki prepoveduje komercialno uporabo, vendar uporabniki ne rabijo upravljati materialnih avtorskih pravic na izpeljanih delih z enako licenco.
Začetek licenciranja:26.11.2019

Sekundarni jezik

Jezik:Ni določen
Ključne besede:pirin, Schnitzlerjev sindrom, haploinsuficienca, avtovnetne bolezni, s pirinom povezane avtovnetne bolezni, z NLRP3 povezane avtovnetne bolezni, relopatije


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