Table 1 Study population
From: Neurological phenotypes in patients with NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants
Features | All variants (n = 155) | NLRP3 variants w/o MS (n = 17, 11%) | NLRP3 variants with MS (n = 19, 12%) | MEFV variants w/o MS (n = 19, 12%) | MEFV variants with MS (n = 34, 22%) | TNFRSF1A variants w/o MS (n = 8, 5%) | TNFRSF1A variants with MS (n = 58, 38%) |
|---|---|---|---|---|---|---|---|
M:F | 1:2.8 | 1:4.6 | 1:1.7 | 16:5.3 | 1:3.4 | All females | 1:1.4 |
Age at AID onset (years) | 27.5 ± 6.8 (2–70) | 38.3 ± 16 (12–70) | 30.9 ± 13.6 (12–70) | 18.7 ± 9.7 (2–33) | 22.8 ± 12.3 (6–46) | 28.7 ± 12.9 (14–48) | 25.9 ± 11.1 (7–55) |
Age at AID diagnosis (years) | 37.7 ± 5.2 (20–76) | 46.1 ± 12.9 (24–71) | 40.6 ± 10.8 (20–61) | 31.3 ± 10.7 (20–59) | 34.3 ± 12.6 (13–63) | 36.8 ± 11.6 (16–51) | 36.8 ± 14.2 (14–76) |
Diagnose latency for AID (years) | 10.1 ± 1.8 (1–26) | 7.2 ± 7.3 (1–22) | 11.1 ± 12.1 (1–36) | 10.8 ± 10.3 (0–29) | 12.3 ± 11.4 (0–36) | 8.7 ± 11.9 (0–28) | 10.4 ± 9.3 (0–34) |
Disease duration (years) | 16.5 ± 3.1 (2–45) | 11.1 ± 8.3 (2–27) | 14.6 ± 12.7 (2–39) | 17.4 ± 12 (3–41) | 19.1 ± 10.9 (6–40) | 17 ± 10.4 (6–34) | 19.5 ± 10.5 (4–45) |
Positive family history for AID | 68/44% | 11/65% | 8/42% | 10/53% | 13/38% | 3/38% | 23/40% |
Mediterranean origin | 38/25% | 3/18% | 4/21% | 12/63% | 10/29% | 0 | 9/16% |
Anti-IL-1 treatment | 17/11% | 10/59% | 2/11% | 1/5% | 2/6% | 3/38% | 0 |
Colchicine | 20/13% | 0 | 0 | 16/84% | 4/12% | 0 | 0 |