{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T03:00:23Z","timestamp":1783652423923,"version":"3.55.0"},"reference-count":28,"publisher":"The Journal of Rheumatology","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Rheumatol"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:title>Objective.<\/jats:title><jats:p>The aim of our study was to analyze the clinical and functional effect of the p.Q703K (p. Q705K, c. 2107C&gt;A) variant of the <jats:italic>NLRP3<\/jats:italic> gene in a population of patients screened for suspected cryopyrin-associated periodic syndrome (CAPS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods.<\/jats:title><jats:p>Since 2002, 580 patients underwent molecular analysis for <jats:italic>NLRP3<\/jats:italic>. Data on clinical presentation, response to treatment, and longterm followup were collected using a uniform questionnaire. The pattern of cytokine secretion after lipopolysaccharide stimulation from isolated monocytes was analyzed in 3 patients carrying the p.Q703K variant and 1 patient with a chronic infantile neurologic, cutaneous, articular syndrome phenotype carrying both the p.M406I and p.Q703K, and compared with 7 patients with CAPS with sure pathogenic variants and 6 healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results.<\/jats:title><jats:p>The p.Q703K variant was found in 57 screened patients with an overall allelic frequency of 5%. The frequency in normal controls was 5.5%. Clinical data at the moment of molecular analysis and at followup were available in 36 patients. Two patients displayed additional mutations of <jats:italic>NLRP3<\/jats:italic>. The mean followup was 2.5 years. Thirteen patients (39%) had a final diagnosis different from the original suspicion of CAPS. The remaining 21 patients displayed a mild phenotype mainly characterized by recurrent episodes of urticarial rash and arthralgia. Only 8 patients were treated with anti-interleukin (IL)-1 treatment, with a complete response in 5 patients. The pattern of secretion of IL-1\u03b2 and other cytokines (IL-6 and IL-1 receptor antagonist) in patients did not display the aberrancies observed in patients with CAPS and was similar to that observed in healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion.<\/jats:title><jats:p>The present study confirms the weak clinical and functional effect of the p.Q703K variant.<\/jats:p><\/jats:sec>","DOI":"10.3899\/jrheum.150962","type":"journal-article","created":{"date-parts":[[2016,4,2]],"date-time":"2016-04-02T01:44:54Z","timestamp":1459561494000},"page":"1093-1100","source":"Crossref","is-referenced-by-count":30,"title":["Clinical Characteristics of Patients Carrying the Q703K Variant of the <i>NLRP3<\/i> Gene: A 10-year Multicentric National 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