Table 1. Inflammasome-related genes correlating with human diseases.
| Disease | Gene | Allele | Mechanism | Ref. |
|---|---|---|---|---|
| MWS | NLRP3 | V198M, R260L, R260W, V262G, L264V, D303N, E311K, H312P, T348M, A352V, A439T, I480F, A495V, F523C(t>g), E567K, G569R, S710C | Spontaneous inflammasome assembly,IL-1β hyperproduction | 69, 71, 72, 74, 75 |
| FCAS | NLRP3 | V198M, C259W, G301D, L353P, T436A, A439V, R488K, E525K, Y563N, E627G, M659K | Spontaneous inflammasome assembly,IL-1β hyperproduction | 71, 72, 74, 75 |
| CINCA syndrome | NLRP3 | C148Y, R168Q, I172T, V198M, R260P, R260W, V262A, V262G, L264H,R,F, D303N, D303H, D303G, E304K, Q306L, G307V, F309S, P315L, G326E, S331R, V351M,L, E354D, H358R, A374D, T405P, M406I, T436I,P,N, T436del, A439P, F443L, N477K, I480F, F523L(c>a), F523L(c>g), G569A, Y570C,F, L571F, I572F, F573S, T587I, L632F, M662T, E688K, E690K, G755A, G755R, Y859C | Spontaneous inflammasome assembly,IL-1β hyperproduction,necrosis-like cell death? | 69, 74, 75, 76, 81, 83 |
| FCAS-like diseases | NLRP12 | R284X | Non-canonical NF-κB activation | 90, 91 |
| Familial Mediterranean fever-like syndrome | PYPAF1 | R554X | Non-canonical NF-κB activation | 97 |
| HIV infection | NLRP3 | SNP 3′ UTR rs10754558 G | Unknown | 99 |
| C. albicans infection (vulvar vestibulitis) | NLRP3 | Intron 4, alternative splicing site | Reduced inflammasome activity? Impaired IL-1β production? | 103 |
| Mycoplasm infection (infertility) | NLRP3 | Intron 4, alternative splicing site | Reduced inflammasome activity?Impaired IL-1β production? | 104 |
| C. trachomatis infection (tubal pathology) | NLRP3 | rs12065526 G>A | Unknown | 105 |
| Crohn's disease | NLRP3 | Q705K (+ C10X CARD8 gene)SNP 5′ UTR rs4925648 C/TSNP rs10925019 C/T | IL-1-mediated? | 85, 86, 87, 88 |
| Psoriatic juvenile idiopathic arthritis | NLRP3 | SNP rs3806265 | IL-1-mediated? | 117 |
| Rheumatoid arthritis | NLRP3 | Q705K (+ C10X CARD8 gene) | IL-1-mediated? | 120 |
| Food-induced anaphylaxis | NLRP3 | SNP rs4612666SNP rs10754558 | IL-1-mediated? | 123 |
| Aspirin-induced asthma | NLRP3 | SNP rs4612666 | IL-1-mediated? | 123 |
| Urticaria | NLRP3 | ? | IL-1β hyperproduction in the skin? | 125 |
| Vitiligo | NLRP1 | 5′ UTR ?3′ UTR rs6502867 | IL-1-mediated autoimmunity?Aberrant apoptosome formation? | 126, 127 |
| Autoimmune Addison's disease | NLRP1 | rs12150220 | IL-1-mediated autoimmunity? | 128 |
| Type 1 diabetes | NLRP1 | rs12150220 | IL-1-mediated autoimmunity? | 128 |
| Type 2 diabetes | NLRP3 | ? | Activation of NLRP3 by glucose? | 133 |
| Hypertension | NLRP3 | Intronic mutation | Activation of NLRP3 by cholesterol? | 131 |
| Alzheimer's disease | IL-1β | ? | Activation of NLRP3 by amyloid β? | 136, 138 |
| Cancer | NLRP3 | ? | IL-1β-mediated inflammation? | 8 |
Abbreviations: CINCA, chronic infantile neurological, cutaneous and articular; FCAS, familial cold autoinflammatory syndrome; MWS, Muckle–Wells syndrome.