| Disease . | Key regulator . | Treatment target . | Reference . |
|---|---|---|---|
| CAPS | NLRP3 IL-1β GSDMD | IL-1β (canakinumab) IL-1R (anakinra) IL-1 decoy receptor (rilonacept) NLRP3 (MCC950)? GSDMD? | Goldbach-Mansky et al., 2006; Gattorno et al., 2007; Lachmann et al., 2009; Kitamura et al., 2014; Coll et al., 2015; Xiao et al., 2018 |
| FMF and PAAND | Pyrin IL-1β TNF IL-18? GSDMD | IL-1R (anakinra) IL-1β (canakinumab) IL-1 decoy receptor (rilonacept) IL-18? GSDMD? | Hashkes et al., 2012; Sharma et al., 2017, 2019; Varan et al., 2019 |
| DIRA | IL-1RA | IL-1R (anakinra) | Jesus and Goldbach-Mansky, 2014 |
| Blau syndrome/PGA | NOD2 IL-1β | IL-1R (anakinra) IL-1β (canakinumab) TNF | Aróstegui et al., 2007; Simonini et al., 2013 |
| MKD/HIDS | MVK Pyrin IL-1β | IL-1R (anakinra) IL-1β (canakinumab) | Manthiram et al., 2017 |
| TRAPS | TNFR IL-1β GSDMD? MLKL? | IL-1R (anakinra) IL-1β (canakinumab) | Jesus and Goldbach-Mansky, 2014 |
| Majeed syndrome | LPIN2-NLRP3 IL-1β | IL-1R (anakinra) IL-1β (canakinumab) | Jesus and Goldbach-Mansky, 2014 |
| PAPA syndrome | PSTPIP1-Pyrin IL-1β IL-18? | IL-1R (anakinra) IL-1β (canakinumab) TNF | Kanameishi et al., 2017; Manthiram et al., 2017 |
| PFIT | WDR1-Pyrin IL-18 GSDMD? | IL-18? | Standing et al., 2017 |
| AIFEC | NLRC4 IL-18 IL-1? IFNγ? | IL-18? | Romberg et al., 2017 |
| NAIAD | NLRP1 DPP9 | IL-1? IL-18? NLRP1? GSDMD? | Grandemange et al., 2017; Zhong et al., 2018 |
| NLRP12AD | NLRP12 IL-1 GSDMD? TNF? | IL-1R (anakinra)? | Jéru et al., 2011 |
| Chronic proliferative dermatitis | Sharpin TNF RIPK1 RIPK3 MLKL NLRP3 IL-1R IL-1β | TNF? RIPK1 (Necrostatin-1)? RIPK3 (GSK-872)? MLKL (necrosulfonamide) IL-1R (anakinra)? NLRP3 (MCC950)? GSDMD? | HogenEsch et al., 1993; Gijbels et al., 1996; Gerlach et al., 2011; Kumari et al., 2014; Rickard et al., 2014; Gurung et al., 2016b |
| Disease . | Key regulator . | Treatment target . | Reference . |
|---|---|---|---|
| CAPS | NLRP3 IL-1β GSDMD | IL-1β (canakinumab) IL-1R (anakinra) IL-1 decoy receptor (rilonacept) NLRP3 (MCC950)? GSDMD? | Goldbach-Mansky et al., 2006; Gattorno et al., 2007; Lachmann et al., 2009; Kitamura et al., 2014; Coll et al., 2015; Xiao et al., 2018 |
| FMF and PAAND | Pyrin IL-1β TNF IL-18? GSDMD | IL-1R (anakinra) IL-1β (canakinumab) IL-1 decoy receptor (rilonacept) IL-18? GSDMD? | Hashkes et al., 2012; Sharma et al., 2017, 2019; Varan et al., 2019 |
| DIRA | IL-1RA | IL-1R (anakinra) | Jesus and Goldbach-Mansky, 2014 |
| Blau syndrome/PGA | NOD2 IL-1β | IL-1R (anakinra) IL-1β (canakinumab) TNF | Aróstegui et al., 2007; Simonini et al., 2013 |
| MKD/HIDS | MVK Pyrin IL-1β | IL-1R (anakinra) IL-1β (canakinumab) | Manthiram et al., 2017 |
| TRAPS | TNFR IL-1β GSDMD? MLKL? | IL-1R (anakinra) IL-1β (canakinumab) | Jesus and Goldbach-Mansky, 2014 |
| Majeed syndrome | LPIN2-NLRP3 IL-1β | IL-1R (anakinra) IL-1β (canakinumab) | Jesus and Goldbach-Mansky, 2014 |
| PAPA syndrome | PSTPIP1-Pyrin IL-1β IL-18? | IL-1R (anakinra) IL-1β (canakinumab) TNF | Kanameishi et al., 2017; Manthiram et al., 2017 |
| PFIT | WDR1-Pyrin IL-18 GSDMD? | IL-18? | Standing et al., 2017 |
| AIFEC | NLRC4 IL-18 IL-1? IFNγ? | IL-18? | Romberg et al., 2017 |
| NAIAD | NLRP1 DPP9 | IL-1? IL-18? NLRP1? GSDMD? | Grandemange et al., 2017; Zhong et al., 2018 |
| NLRP12AD | NLRP12 IL-1 GSDMD? TNF? | IL-1R (anakinra)? | Jéru et al., 2011 |
| Chronic proliferative dermatitis | Sharpin TNF RIPK1 RIPK3 MLKL NLRP3 IL-1R IL-1β | TNF? RIPK1 (Necrostatin-1)? RIPK3 (GSK-872)? MLKL (necrosulfonamide) IL-1R (anakinra)? NLRP3 (MCC950)? GSDMD? | HogenEsch et al., 1993; Gijbels et al., 1996; Gerlach et al., 2011; Kumari et al., 2014; Rickard et al., 2014; Gurung et al., 2016b |
AIFEC, autoinflammation with infantile enterocolitis; DIRA, deficiency of IL-1R antagonist; HIDS, hyper IgD syndrome; MKD, mevalonate kinase deficiency; NLRP12AD, NLRP12-associated autoinflammatory disease; PAAND, Pyrin-associated autoinflammation with neutrophilic dermatoses; PAPA, pyogenic arthritis, pyoderma gangrenosum, and acne; PFIT, periodic fever, immunodeficiency, and thrombocytopenia; PGA, pediatric granulomatous arthritis; TRAPS, TNF receptor–associated periodic fever.