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Article

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.

The Journal of rheumatology - 1 Jun 2016

Naselli Aldo, Penco Federica, Cantarini Luca, Insalaco Antonella, Alessio Mariolina, Tommasini Alberto, Maggio Cristina, Obici Laura, Gallizzi Romina, Cimmino Marco, Signa Sara, Lucherini Orso Maria, Carta Sonia, Caroli Francesco, Martini Alberto, Rubartelli Anna, Ceccherini Isabella, Gattorno Marco

Abstract excerpt

OBJECTIVE: The aim of our study was to analyze the clinical and functional effect of the p.Q703K (p. Q705K, c. 2107C>A) variant of the NLRP3 gene in a population of patients screened for suspected cryopyrin-associated periodic syndrome (CAPS). METHODS: Since 2002, 580 patients underwent molecular analysis for NLRP3. Data on clinical presentation, response to treatment, and longterm followup were collected using a...

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Identifiers

PMID: 27036377
DOI: 10.3899/jrheum.150962

Genes

CAPS
NLRP3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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