Avtor/Urednik		Kačar, Mark; Pathak, Shelly; Savic, Sinisa
Naslov		Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome
Tip		članek
Vol. in št.		Letnik 58, št. suppl. 6
Leto izdaje		2019
Obseg		str. vi31-vi43
ISSN		1462-0332 - Rheumatology (Oxford, England)
Jezik		eng
Abstrakt		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.
Deskriptorji		Pyrin Schnitzler syndrome Haploinsufficiency Pirin Schnitzlerjev sindrom Haploinsuficienca
Proste vsebinske oznake		autoinflammatory diseases pyrin-associated autoinflammatory diseases NLRP3-related autoinflammatory diseases undifferentiated systemic autoinflammatory disease relopathies avtovnetne bolezni s pirinom povezane avtovnetne bolezni z NLRP3 povezane avtovnetne bolezni relopatije