Table 1.
Common symptomatic NLRP1, NLRP3, NLRP12, NLRC4 and MEFV gene variants linked to the corresponding disease according to the Infevers database (https://infevers.umai-montpellier.fr/web/index.php accessed on 4 June 2023). NLRP1-associated autoinflammation with arthritis and dyskeratosis (NAIAD), familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS), neonatal-onset-multisystem inflammatory disease (NOMID), autoinflammation with infantile enterocolitis (AIFEC), pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND).
| Gene | Disease | Mutations Linked to Disease Phenotype |
|---|---|---|
| NLRP1 | NAIAD | A59P, R726W, L813P, P1214R and L1214L |
| NLRP3 | FCAS | C259W, L305P, L353P, T436A, A439V, E525K, Y563N, E627G, M659K |
| MWS | R170S, R260L, L264V, D303A, E311K, H312P, R325W, T348M, A352V, K355T, A439T, F523C, E567K, E567A, G569R | |
| NOMID | R260P, V262A, L264F, L264H, L264R, D303H, E304K, G307S, G307V, F309S, G326E, A352T, E354D, H358R, A374D, T405P, M406V, M406I, T436P, T436N, A439P, F443L, N477K, F523Y, E525V, F566L, K568N, G569A, Y570C, Y570F, L571F | |
| NLRP12 | FCAS2 | R284X, D294E, H304Y, W408X, S578G, L591M, L710P, R753H, N940S, S979G, R754H, F402L, G448A |
| NLRC4 | FCAS4 | H443P, T177A |
| AIFEC | G172S, T177S, T337S, T337N, L339P, V341L, V341A, H443P, H443Q, W655C, Q657L, delexon5, Q880E | |
| MEFV | FMF | K25R, R39G, E84K, A89T, Q97X, E167D, 606_621dup, K224del, S242R C > G, T267I, P313H, R354W, L372P, L384P, D389V, L396F, E403K, Y471X, F479L, R501C, S503C, 1611-1G > C, S650Y, G668R, M680L, M680V, M680IGA, G687D, Y688F, Y688X, I692DEL, M694V, M694L, M694DEL, M694K, M694I, K695N, V726A, F743Y, Q753H, R761H, N766H, P769A, Q778Sfs*4 |
| PAAND | S242G, S242R C > A, E244K, S363N |