Table 1.

NLRP3 variants included in the study and summary of the analysis (Infevers and GnomAD v4.0.0 databases, personal observations, and Louvrier et al. [2020])

Frequencies based on exome sequencing of the general population of all origins. *, patients with somatic mutation were asymptomatic. For each variant, results obtained in U937 cells are summarized (see Figs. 2 and S4). For pyroptosis, the summary is based on PI incorporation at the time point 135 min. ns, non significant in gray; +, increased compared with WT (pink if above fixed threshold); −, decreased compared with WT (blue if below fixed threshold). In the right column, variant characterizations are color-coded according to their respective group described in Fig. 2 (group#5 in red, #4 in green, #3 in yellow, #2 in blue, #1 in black). PYD, pyrin domain; VUS, variants of uncertain significance.