Clinical and laboratory findings in Schnitzler syndrome cohort
Pt no. . | Sex . | Age at symptom onset, y . | Rash . | Constitutional symptoms, fatigue/fever . | Bone pain . | Lymphadenopathy . | Hearing loss . | Baseline CRP, mg/L . | Hb, g/dL . | Characteristic skin biopsy . | M protein . | κ:λ ratio . | Bone marrow histology . | Response to anakinra . | Duration of anakinra to date, mo . | Clonal progression requiring chemotherapy . | Genes/variants identified by ADS and autoinflammatory gene panel . |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 36.8 | + | + | + | 0 | 0 | 40 | 130 | + | 3 g IgM κ | 1.3 | No overt LPL | Partial | 96 | 0 | NLRP7 p.R156Q |
2 | F | 37.9 | + | + | + | 0 | 0 | 257 | 100 | + | 3 g IgM κ | 0.9 | No overt LPL | Complete | 82 | 0 | PLCG2 p.M28L |
3 | M | 41.9 | + | + | + | 0 | + | 18 | 135 | + | 12 g IgM κ | 4.1 | No overt LPL | Complete | 57 | 0 | NLRP6 p.L801F |
4 | M | 43.9 | + | + | + | 0 | 0 | 60 | 154 | + | 7 g IgG κ | 0.8 | 15% PC | Complete | 38 | 0 | CARD14 p.R682W/p.E422K; TRAP1 p.Y444N |
5 | F | 44.8 | + | + | + | 0 | 0 | 120 | 139 | + | 1 g IgM κ | 1.1 | No overt LPL | Complete | 85 | 0 | NOD2 p.R684W; NLRP7 p.E507V |
6 | F | 49.6 | + | + | + | 0 | 0 | 89 | 133 | + | 4 g IgM κ | 1.4 | ND | Complete | 24 | 0 | CARD14 p.E422K |
7 | M | 49.9 | + | + | + | 0 | 0 | 19 | 128 | ND | 9 g IgM κ | 2.5 | No overt LPL | Complete | 92 | 0 | IL10 p.P1379S |
8 | M | 52.8 | + | + | + | + | 0 | 45 | 143 | + | 4 g IgM λ | 0.9 | No overt LPL | Complete | 115 | 0 | None |
9 | M | 57.1 | + | + | + | 0 | 0 | 18 | 133 | + | 7 g IgM κ | 1.8 | LPL | Complete | 93 | 0 | NLRP3 p.V198M; PLCG2 p.M28L; SH3BP2 p.G313R |
10 | M | 58.1 | + | + | + | 0 | 0 | 49 | 121 | + | 3 g IgM κ | 2.2 | LPL | Complete | 41 | 0 | NOD2 p.T189M |
11 | M | 59.6 | + | + | + | + | 0 | 79 | 105 | + | 7 g IgM λ | 0.6 | No overt LPL | Died of AA amyloid pretreatment | ND | 0 | CARD14 p.S200N; NLRP7 p.V518A/p.E507V |
12 | M | 61.7 | + | + | + | 0 | 0 | 40 | 138 | + | 5 g IgM κ | 8.0 | No overt LPL | Complete | 60 | 0 | NLRP7 p.L29V |
13 | F | 60.7 | + | + | + | 0 | 0 | 112 | 128 | + | 9 g IgM κ | 15.7 | Low-grade MZL | Complete | 25 | 0 | PLCG2 p.M28L |
14 | F | 68.4 | + | + | + | 0 | 0 | 140 | 100 | + | 8 g IgM κ | 9.5 | No overt LPL | Complete | 83 | 0 | NOD2 p.M863V/p.A1006fs |
15 | M | 78.9 | + | + | + | 0 | 0 | 143 | 138 | ND | 7 g IgM κ | 3.6 | No overt LPL | Complete | 91 | 0 | ND |
16 | F | 39.7 | + | + | + | + | 0 | 26 | 121 | + | 16 g IgM κ | 1.9 | No overt LPL | Complete | 17 | 0 | PLCG2 p.M28L |
17 | M | 40.7 | + | + | + | + | 0 | 20 | 131 | + | 4 g IgM κ | 5.1 | No overt LPL | Complete | 15 | 0 | None |
18 | M | 61.2 | + | + | + | 0 | 0 | 80 | 95 | + | 8 g IgM κ | 3.1 | No overt LPL | Complete | 15 | 0 | None |
19 | F | 59 | + | + | + | 0 | 0 | 75.2 | 119 | ND | 5 g IgM κ | ND | CD+ B- cell LPD, MZL | Complete | 45 | 0 | None* |
20 | M | 43.6 | + | + | + | + | 0 | 110 | 100 | + | 6 g IgM κ | 0.591 | MGUS | Complete | 27 | 0 | None* |
21 | F | 51 | + | + | + | 0 | 0 | ND | ND | ND | 14 g IgM κ | ND | No overt LPL | Complete | 60 | 0 | None* |
Pt no. . | Sex . | Age at symptom onset, y . | Rash . | Constitutional symptoms, fatigue/fever . | Bone pain . | Lymphadenopathy . | Hearing loss . | Baseline CRP, mg/L . | Hb, g/dL . | Characteristic skin biopsy . | M protein . | κ:λ ratio . | Bone marrow histology . | Response to anakinra . | Duration of anakinra to date, mo . | Clonal progression requiring chemotherapy . | Genes/variants identified by ADS and autoinflammatory gene panel . |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 36.8 | + | + | + | 0 | 0 | 40 | 130 | + | 3 g IgM κ | 1.3 | No overt LPL | Partial | 96 | 0 | NLRP7 p.R156Q |
2 | F | 37.9 | + | + | + | 0 | 0 | 257 | 100 | + | 3 g IgM κ | 0.9 | No overt LPL | Complete | 82 | 0 | PLCG2 p.M28L |
3 | M | 41.9 | + | + | + | 0 | + | 18 | 135 | + | 12 g IgM κ | 4.1 | No overt LPL | Complete | 57 | 0 | NLRP6 p.L801F |
4 | M | 43.9 | + | + | + | 0 | 0 | 60 | 154 | + | 7 g IgG κ | 0.8 | 15% PC | Complete | 38 | 0 | CARD14 p.R682W/p.E422K; TRAP1 p.Y444N |
5 | F | 44.8 | + | + | + | 0 | 0 | 120 | 139 | + | 1 g IgM κ | 1.1 | No overt LPL | Complete | 85 | 0 | NOD2 p.R684W; NLRP7 p.E507V |
6 | F | 49.6 | + | + | + | 0 | 0 | 89 | 133 | + | 4 g IgM κ | 1.4 | ND | Complete | 24 | 0 | CARD14 p.E422K |
7 | M | 49.9 | + | + | + | 0 | 0 | 19 | 128 | ND | 9 g IgM κ | 2.5 | No overt LPL | Complete | 92 | 0 | IL10 p.P1379S |
8 | M | 52.8 | + | + | + | + | 0 | 45 | 143 | + | 4 g IgM λ | 0.9 | No overt LPL | Complete | 115 | 0 | None |
9 | M | 57.1 | + | + | + | 0 | 0 | 18 | 133 | + | 7 g IgM κ | 1.8 | LPL | Complete | 93 | 0 | NLRP3 p.V198M; PLCG2 p.M28L; SH3BP2 p.G313R |
10 | M | 58.1 | + | + | + | 0 | 0 | 49 | 121 | + | 3 g IgM κ | 2.2 | LPL | Complete | 41 | 0 | NOD2 p.T189M |
11 | M | 59.6 | + | + | + | + | 0 | 79 | 105 | + | 7 g IgM λ | 0.6 | No overt LPL | Died of AA amyloid pretreatment | ND | 0 | CARD14 p.S200N; NLRP7 p.V518A/p.E507V |
12 | M | 61.7 | + | + | + | 0 | 0 | 40 | 138 | + | 5 g IgM κ | 8.0 | No overt LPL | Complete | 60 | 0 | NLRP7 p.L29V |
13 | F | 60.7 | + | + | + | 0 | 0 | 112 | 128 | + | 9 g IgM κ | 15.7 | Low-grade MZL | Complete | 25 | 0 | PLCG2 p.M28L |
14 | F | 68.4 | + | + | + | 0 | 0 | 140 | 100 | + | 8 g IgM κ | 9.5 | No overt LPL | Complete | 83 | 0 | NOD2 p.M863V/p.A1006fs |
15 | M | 78.9 | + | + | + | 0 | 0 | 143 | 138 | ND | 7 g IgM κ | 3.6 | No overt LPL | Complete | 91 | 0 | ND |
16 | F | 39.7 | + | + | + | + | 0 | 26 | 121 | + | 16 g IgM κ | 1.9 | No overt LPL | Complete | 17 | 0 | PLCG2 p.M28L |
17 | M | 40.7 | + | + | + | + | 0 | 20 | 131 | + | 4 g IgM κ | 5.1 | No overt LPL | Complete | 15 | 0 | None |
18 | M | 61.2 | + | + | + | 0 | 0 | 80 | 95 | + | 8 g IgM κ | 3.1 | No overt LPL | Complete | 15 | 0 | None |
19 | F | 59 | + | + | + | 0 | 0 | 75.2 | 119 | ND | 5 g IgM κ | ND | CD+ B- cell LPD, MZL | Complete | 45 | 0 | None* |
20 | M | 43.6 | + | + | + | + | 0 | 110 | 100 | + | 6 g IgM κ | 0.591 | MGUS | Complete | 27 | 0 | None* |
21 | F | 51 | + | + | + | 0 | 0 | ND | ND | ND | 14 g IgM κ | ND | No overt LPL | Complete | 60 | 0 | None* |
ADS, amplicon-based deep sequencing; F, female; Hb, hemoglobin; LPD, lymphoproliferative disorder; M, male; MZL, marginal zone lymphoma; ND, not done; PC, plasma cells; Pt, patient.
Testing was limited to ADS for the NLRP3 gene.