NFKB1 and CINCA syndrome: In 2005, Saito et al., identified the first somatic mutation in a CINCA/NOMID proband, NM_001243133.2(NLRP3):c.1709A>G (p.Tyr570Cys) localized in the exon 3; the authors demonstrated that this somatic point variation increased the ability of NLRP3 to promote NF-kB activation in an ASC-dependent manner (102).