20.500.12556/DiRROS-13874 Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome 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. pyrin Schnitzler syndrome haploinsufficiency autoinflammatory diseases pyrin-associated autoinflammatory diseases NLRP3-related autoinflammatory diseases undifferentiated systemic autoinflammatory disease relopathies pirin Schnitzlerjev sindrom haploinsuficienca avtovnetne bolezni s pirinom povezane avtovnetne bolezni z NLRP3 povezane avtovnetne bolezni relopatije true false true Oxford University Press Angleški jezik Ni določen © The Author(s) 2019 Neznano 2021-04-08 14:51:55 2021-04-08 14:51:56 2022-08-19 03:37:19 0000-00-00 00:00:00 2019 0 Velika Britanija 0 Nasl. z nasl. zaslona; Opis vira z dne 7. 4. 2021; str. vi31-vi43 suppl. 6 Vol. 58 Nov. 2019 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616-002 1462-0332 10.1093/rheumatology/kez448 58561539 RAZ_Kacar_Mark_i2019.pdf RAZ_Kacar_Mark_i2019.pdf 1 0EB0890F5B746E42755C5B4BE85942FA 809736f99bb45b4d4d7fb1bff472f4dca1f0c804d652732df1dad9f1c0e64d2f 8387af41-17b6-11ed-b6b8-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=17135 https://academic.oup.com/rheumatology/article-pdf/58/Supplement_6/vi31/31139742/kez448.pdf 1 https://dirros.openscience.si/Dokument.php?lang=slv&id=16985 Univerzitetna klinika za pljučne bolezni in alergijo Golnik 0 0 0