Table 3.
Detailed characteristics of patients with uAIDs treated with canakinumab.
| Results of NGS | Clinical features | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ID | Gender | Fever | Rash | Serosites | Arthritis | GI | Eye | Hydrocephalus | Sensorineural hearing loss | Laboratory activity | Onset age | Age at the time of diagnosis | Initial treatment (non-biologic) | Initial treatment (biologic drugs) | Outcome | |
| 1 | W | NLRC4 {c.928 C>T, p.R310X} | + | + | - | + | - | - | - | - | + | 1.2 | 3.6 | Colchicine NSAID |
CAN | CR |
| 2 | W | PSMB8 {c.22 G>A, p.G8R} | + | + | - | + | - | - | - | - | + | 1.6 | 11.6 | GCS, MTX, CsA, NSAID |
TCZ, CAN | CR |
| 3 | M | LPIN2 {c.1489 G>A, p.E497K} | + | + | - | + | + | - | - | + | + | 1.9 | 3.5 | NSAID | CAN | CR |
| 4 | W | LPIN2 {c.2621 G>T, p.C874F} | + | + | + | + | - | + | - | - | + | 1.4 | 2.5 | GCS, IVIG, NSAID |
CAN TCZ | NR (PI) |
| 5 | W | LPIN2 {c.1510C>T, p.L504F} | + | + | + | + | - | - | - | - | + | 3.9 | 15 | GCS, IVIG, MTX, CTX, CsA, NSAID |
RTX, ADA INF, TCZ, CAN | CR |
| 6 | M | PSMB8 {c.392C>T, p.L131P} | + | + | - | + | - | - | - | - | + | 5.6 | 5.7 | GCS, IVIG, MTX, CsA, NSAID |
TCZ, CAN | CR |
| 7 | M | STAT4 {c.383A>T, p.E128V} | + | + | + | + | - | - | - | - | + | 1.4 | 1.7 | GCS, NSAID | TCZ, CAN | CR |
| TNFRSF1B {c.613C>G, p.P205A} | ||||||||||||||||
| 8 | W | PSMB8 {c.220_222delinsTCA, p.T74S} | + | + | - | + | - | - | - | - | + | 2.5 | 3.9 | GCS, MTX, NSAID |
TCZ, CAN | CR |
| PRF1 {c.368G>A, p.R123H} | ||||||||||||||||
| 9 | W | IL23R {c.445G>A (heterozygous), p.G149R} | + | + | - | + | - | - | - | - | + | 1.5 | 2.3 | GCS, CsA, NSAID |
TCZ, CAN | CR |
| STXBP2 {c.398G>A, p.R133H} | ||||||||||||||||
| 10 | M | NLRP12 {c.910C>T, p.H304Y} | + | + | + | + | - | - | - | - | + | 4.5 | 15.5 | GCS, MTX, CTX, NSAID |
TCZ, CAN | CR |
| IL10 {c.43G>A, p.G15R} | ||||||||||||||||
| 11 | W | PLCG2 {c.1506G>C, p.K502N} | + | + | + | - | - | - | - | - | + | 3.4 | 4 | GCS, MTX, SSZ |
TCZ, CAN ANA, SAR | NR (SI) |
| 12 | M | TREX1 {c.1079A>G, p.Y360C} | + | + | - | + | - | - | - | - | + | 4.1 | 4.4 | GCS, IVIG, NSAID |
TCZ, CAN | CR |
| SLC7A7 {c.1400A>T, p.K467M} | ||||||||||||||||
| 13 | W | NLRP12 {c.0.1316T>A, p.L439Q} | + | + | - | + | + | - | - | - | + | 0.8 | 1.5 | GCS, IVIG CsA |
TCZ, CAN | CR |
| 14 | M | PTHR1 {c.448C>T, p.R150C} | + | + | - | + | - | - | - | - | + | 1.2 | 5.7 | GCS, IVIG, MTX, MMF |
CAN | CR |
| 15 | W | IFIH1 {c.1865C>T, p.A622V} | + | + | - | + | - | + | - | - | + | 2.6 | 2.8 | GCS, NSAID | TCZ, CAN | CR |
| 16 | W | NFAT5 {c.74-1G>C, p.A622V} | + | + | - | + | - | - | - | - | + | 6.5 | 6.8 | GCS, IVIG NSAID |
TCZ, CAN | CR |
| LYST {c.7870C>T, p.R2624W} | ||||||||||||||||
| 17 | W | TREX1 {c.1079A>G, p.Y360C} | + | + | + | + | + | - | - | - | + | 5.3 | 7.7 | GCS, MTX, NSAID |
TCZ, CAN | CR |
| 18 | W | NLRC4 {c.1550 G>C, p.C517S} | + | + | - | + | - | - | - | - | + | 1.3 | 2.5 | GCS, IVIG, MTX, NSAID |
TCZ, CAN | CR |
| LPIN2 {c.1456 + 4C>G, p. -} | ||||||||||||||||
| 19 | W | LPIN2 {c.1814C>T, p.S605L | + | + | + | - | - | - | - | - | + | 10.8 | 11 | GCS, IVIG, CsA, NSAID |
TCZ, CAN | CR |
| 20 | M | IFIH1 {c.229C>T, p.R77W} | + | + | - | + | - | - | - | - | + | 2.5 | 3.3 | GCS, MTX NSAID |
TCZ, CAN | CR |
| LYST {c.7385C>A, p.A2462E} | ||||||||||||||||
| 21 | W | LYST {c.7385C>A, p.A2462E} | + | + | + | - | - | - | + | - | + | 16.7 | 17.2 | GCS, IVIG, CsA, HCQ NSAID |
CAN | CR |
| LYST {c.c.6710A>C, p.Q2237P} | ||||||||||||||||
| 22 | M | LACC1 {c.632A>G, p.N211S} | + | + | - | + | + | - | - | - | + | 1.1 | 1.8 | GCS, MTX, NSAID |
TCZ, CAN | CR |
| LACC1 {c.988_990del, p.I330del} | ||||||||||||||||
| 23 | W | COPA {c.1558A>G, p.I520V} | + | + | - | + | - | - | - | - | + | 1.9 | 2.3 | GCS, NSAID | TCZ, CAN, TOF, SAR | NR (PI) |
| 24 | W | NLRP12 {c.1659G>C, p.R553S} | + | + | - | + | - | + | - | - | + | 7.8 | 8.7 | GCS, NSAID | TCZ, SAR, CAN | CR |
| 25 | W | PLCG2 {c.1063T>A, p.C355S} | + | + | + | + | - | - | - | - | + | 4 | 16.8 | GCS, IVIG, MTX, CsA |
ETA, TCZ, CAN | CR |
| 26 | M | TNFAIP3 {c.1217A>T, p.E406V} | + | - | - | + | - | - | - | - | + | 5.7 | 14.7 | GCS, NSAID | TCZ, CAN | CR |
| 27 | M | LRBA {c.349A>G, p.I117V} | + | - | - | - | - | - | - | - | + | 1.4 | 13.8 | GCS, NSAID | CAN | CR |
| TNFRSF11A {c.718A>G, p.K240E} | ||||||||||||||||
| 28 | M | - | + | - | - | + | - | - | - | + | 0.3 | 0.5 | GCS, NSAID | CAN, TCZ | PR | |
| 29 | W | - | + | + | - | - | - | - | - | - | + | 3 | 23.4 | NSAID | CAN | CR |
| 30 | M | JAK1 {c.656G>A, p.R219Q} | + | - | + | - | - | - | - | - | + | 5.9 | 7.4 | GCS, Colchicine | CAN, TCZ | NR (SI) |
| DDX58 {c.109G>A, p.E37K} | ||||||||||||||||
| 31 | M | IL36RN {c.0.368C>T, p.T123M} | + | + | - | - | - | - | - | - | + | 0.1 | 7.7 | GCS, NSAID | CAN | CR |
| 32 | W | NLRP12 {c.1054C>T, p.R352C} | + | + | - | - | - | - | - | - | + | 0.2 | 0.3 | NSAID | CAN | CR |
| C8B {c.1282C>T, R428*} | ||||||||||||||||
ADA, adalimumab; ANA, anakinra; CAN, canakinumab; CR, complete remission; CsA, cyclosporine A; CTX, cyclophosphamide; GCS, corticosteroids; ETA, etanercept; HCQ, hydroxychloroquine; INF, infliximab; IVIG, intravenous immunoglobulin; MTX, methotrexate; MMF, mycophenolate mofetil; NR, non-responder; NSAID, non-steroidal anti-inflammatory drugs; PI, primary inefficacy; PR, partial remission; RTX, rituximab; SAR, sarilumab; SI, secondary inefficacy SSZ, sulfasalazine; TCZ, tocilizumab; and TOF, tofacitinib.