FIGURE 1.

Cytokine secretion by PBMCs from patients with NLRP7 mutations and variants. A, schematic representation of the NLRP7 protein with the various mutations and rare variants analyzed in this study. NLRP7 protein shares three functional domains with several members of the Nod-like receptor (NLR) family, PYD, NACHT, and LRR. (B) PBMCs from patients with NLRP7 mutations have an impaired IL-1β and TNF secretion. Freshly isolated PBMCs (1.5 × 10⁶cells) were stimulated with LPS for 24 h. The cells were centrifuged, and supernatants were collected to measure the amount of IL-1β and TNF released in the media by ELISA. Relative amounts of each cytokine refer to the secreted amounts by patients cells divided by those secreted by control cells. The averages and S.E. were calculated on two to three different ELISA assays on supernatants from the same LPS stimulation. C, PBMCs from two patients with rare NLRP7 variants show also lower IL-1β and TNF secretion than controls. D, IL-1β and TNF secretion by PBMCs from patient 636 stimulated with LPS for 48 h. C1 after 24 h of stimulation was adopted as 1-fold. After 48 h of stimulation, the amount of IL-1β was 2.2 times higher than the level after 24 h and was kept at 2.2 to highlight the accumulation of IL-1β in both control and patient cells. aa, amino acids; NSVs, nonsynonymous variants.