| Disease | Inflammasome involvement | References |
| Systemic onset juvenile arthritis (SoJIA) | Human studies in patients with SoJIA showing: (1) increased expression of IL1β from PBMCs upon stimulation and (2) cases of clinical efficacy of recombinant IL1Ra | Pascual et al, Verbsky et al82 93 |
| Gout/CPPD | Defective crystal-induced IL1β activation in knockout animals for NALP3, ASC or caspase-1; indirect evidence from human studies proving effectiveness of IL1Ra in gout | Martinon et al, So et al4 81 |
| Familial Mediterranean fever | Mutations of pyrin, an inflammasome inhibitor, may lead to defective downregulation of inflammasome activation or to direct activation of caspase-1 | Chae et al, The French FMF Consortium, The International FMF Consortium68 69 94 95 |
| Cryopyrin associated periodic syndromes (CAPS) | Mutated NALP3 (cryopyrin) has enhanced propensity to induce caspace-1 | Hoffman et al74 |
| Crohn disease, Blau syndrome | NOD2 mutations are identified in 10–15% of patients with Crohn disease: (1) Loss of function NOD2 mutations may lead to defective macrophage function, persistent intracellular infection of macrophages and chronic T cell stimulation; (2) gain of function NOD2 mutations may enhance the sensitivity of macrophages to MDP, thus potentiating NFκB activity and inflammatory responses | Hugot et al, Oruga et al, Baumgart et al96–98 |
ASC, apoptosis-associated speck-like protein containing a caspase recruitment domain (CARD); CPPD, calcium pyrophosphate dihydrate; IL, interleukin; IL1Ra, IL1 receptor antagonist; MDP, muramyl dipeptide; NALP, NTPases implicated in apoptosis and multihistocompatability complex transcription (NACHT) leucine-rich repeat protein; NFκB, nuclear factor κB; NOD, nucleotide-binding and oligomerisation domain.