{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:47:13Z","timestamp":1791100033320,"version":"4.1.0"},"reference-count":0,"publisher":"SMW Supporting Association","issue":"2526","license":[{"start":{"date-parts":[[2012,6,17]],"date-time":"2012-06-17T00:00:00Z","timestamp":1339891200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Swiss Med Wkly"],"abstract":"<jats:p>The  monogenic autoinflammatory syndromes are conditions caused by mutations of  genes coding for proteins that play a pivotal role in the regulation of the  inflammatory response.\n        Due to  their genetic nature, most of these disorders have an early onset.\n        Clinically  they are characterised by recurrent flares of systemic inflammation presenting  most of the time as sudden fever episodes associated with elevation of acute  phase reactants and with a number of clinical manifestations such as rash,  serositis, lymphadenopathy and arthritis.\n        Symptom-free  intervals are characterised by complete wellbeing, normal growth and complete  normalisation of acute phase reactants.\n        Familial  Mediterranean fever (FMF), mevalonate-kinase deficiency (MKD) and tumour  necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) are the  three monogenic disorders subsumed under the term periodic fevers, while a  systemic inflammation dominated by a characteristic urticarial rash associated  with a number of other clinical manifestations is typical of familial cold  autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic  infantile neurological cutaneous and articular syndrome (CINCA). These diseases  represent the clinical spectrum of different mutations of a gene named  cold-induced autoinflammatory syndrome 1 (CIAS-1, or NLRP3) coding for a  protein called cryopyrin. Hence these disorders are also known as  cryopyrin-associated periodic syndromes (CAPS).\n        Other  conditions are characterised by typical granulomatous formations (granulomatous  disorders). Blau\u2019s syndrome (familial juvenile systemic granulomatosis)  presents with non-caseating granulomatous inflammation affecting the joint,  skin, and uveal tract (the triad of arthritis, dermatitis and uveitis) and is  associated with mutations of the NACHT domain of the gene CARD15 (or NOD2).<\/jats:p>","DOI":"10.4414\/smw.2012.13602","type":"journal-article","created":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T13:42:22Z","timestamp":1340804542000},"page":"w13602","source":"Crossref","is-referenced-by-count":16,"title":["The autoinflammatory diseases"],"prefix":"10.57187","volume":"142","author":[{"given":"Silvia","family":"Federici","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Caorsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Gattorno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"36756","published-online":{"date-parts":[[2012,6,17]]},"container-title":["Swiss Medical Weekly"],"original-title":[],"link":[{"URL":"https:\/\/smw.ch\/index.php\/smw\/article\/download\/1509\/1902","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/smw.ch\/index.php\/smw\/article\/download\/1509\/1903","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/smw.ch\/index.php\/smw\/article\/download\/1509\/1902","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T03:51:50Z","timestamp":1755229910000},"score":1,"resource":{"primary":{"URL":"https:\/\/smw.ch\/index.php\/smw\/article\/view\/1509"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,17]]},"references-count":0,"journal-issue":{"issue":"2526","published-online":{"date-parts":[[2012,6,18]]}},"URL":"https:\/\/doi.org\/10.4414\/smw.2012.13602","relation":{},"ISSN":["1424-3997"],"issn-type":[{"value":"1424-3997","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,17]]}}}