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The Q703K is a variant of NLRP3 gene has an unknown pathogenetic significance. It, has been considered to be a clinically unremarkable polymorphism, due to its presence in 12-20% of general population. However, a recent study has shown that carriers of the Q703K display an higher secretion of IL-1b, thus suggesting a possible pathogenic role of this variant.

PReS-FINAL-2196: The clinical significance of the Q703K mutation of NLRP3 gene. A multicentric national study