Fig E1.

NLR family pyrin domain containing 3 (NLRP3) inflammasome activation associated with the p.T647P heterozygous variant in TNFAIP3. A, PBMCs from subject III.1 constitutively expressed higher levels of FLICA (caspase-1) in response to LPS (mean, 16.57; SEM, 2.533) compared with control subjects (mean, 4.667; SEM, 0.01; P = .009). B and C, There was increased release of IL-1β and IL-18 in supernatants from PBMCs derived from subject III.1 after LPS stimulation compared with that in healthy control subjects (P = .007 and P = .01, respectively). Differences in IL-1β, IL-18 secretion, and caspase-1 activation were also observed between PBMCs derived from subject III.1 and healthy control cells after ATP addition. Results are expressed as means and SEMs. P values of less than .05 determined by using the unpaired t test were considered significant. WT, Wild-type.