Figure 1. Flow chart for the screening of mutations in the genes MVK, NLRP3 and TNFRSF1A.

In our patient cohort, we performed a simultaneous search for punctual mutations and gene rearrangements using qPCR-HRM in the prospective group and qPCR alone in the retrospective group (as these patients had already been assessed for qualitative alterations), then SQF-PCR in both groups as a confirmatory quantitative approach.