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Recent studies showed a notable frequency of somatic mosaicism of the NLRP3 gene in chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome (35%) and Muckle-Wells syndrome (MWS)(12.5%) patients that were not detectable by common Sanger sequencing.

Detection of low frequency variants of the NLRP3 gene in “mutation- negative” CAPS patients using massive parallel sequencing