Table 2.
Clinical data of NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants with MS
| Features | Total AIDs with MS (n = 111) | NLRP3 variants with MS (n = 19) | MEFV variants with MS (n = 34) | TNFRSF1A variants with MS (n = 58) | MS w/o mutations (n = 51) |
|---|---|---|---|---|---|
| M:F | 1:2.2 | 1:1.7 | 1:2.4 | 1:3.4 | 1:2 |
| Age at MS diagnosis (years) | 29.6 ± 12.3 | 31.5 ± 11.5 (11–48) | 28.4 ± 12.3 (7–63) | 28.9.0 ± 12.4 (12–51) | 32.7.0 ± 11.7 (14–56) |
| Diagnose latency for MS (years) | 3.3 ± 5.8 | 4.3 ± 6.7 (0–29) | 2.9 ± 5.2 (0–25) | 2.8.0 ± 4.0 (0–29) | 2.3.0 ± 3.0 (0–29) |
| MS disease duration (years) | 14.6 ± 8.6 | 12.2 ± 8.6 (3–35) | 13.8 ± 8.5 (3–27) | 17.7 ± 8.8 (5–32) | 14.0 ± 7.8 (8–43) |
| RRMS | 92/83% | 18/95% | 30/88% | 44/76% | 39/76% |
| SPMS | 12/11% | 1/5% | 2/6% | 9/16% | 7/14% |
| PPMS | 7/6% | 0/0% | 2/6% | 5/8% | 5/10% |
| EDSS at baseline | 3 ± 2 | 4 ± 2 | 3 ± 2 | 3 ± 2 | 3 ± 2 |
| EDSS at follow-up | 3 ± 2 | 3.5 ± 2 | 3.5 ± 2 | 3 ± 2 | 3.3 ± 2 |
| MSSS at baseline | 3.1 ± 1.9 | 4.4 ± 2.6 | 3.8 ± 2.3 | 3.8 ± 2.6 | 3.8 ± 1.8 |
| MSSS at follow-up | 3.1 ± 1.9 | 3.2 ± 2.2 | 3.4 ± 1.7 | 2.8 ± 2 | 2.9 ± 1.5 |
| DMT for mild disease course* | 67/60% | 10/53% | 28/82% | 29/50% | 35/68% |
| DMT for moderate/severe disease course** | 31/28% | 3/16% | 6/18% | 22/38% | 9/18% |
| No DMT | 13/12% | 6/32% | 0/0% | 7/12% | 7/14% |
| Positive family history for MS | 23/21% | 5/26% | 6/18% | 12/21% | 6/12% |
Demographic data of 108 MS patients were assessed. Numbers, if not stated differently, represent mean ± SD (range). EDSS Expanded Disability Status Scale, MSSS Multiple Sclerosis Severity Score, RRMS relapsing-remitting MS, SPMS secondary progressive MS, PPMS primary progressive MS; DMT disease-modifying therapies
*Interferons, glatirameracetat, teriflunomide, dimethylfumarate, steroids, and azathioprine
**Fingolimod, natalizumab, alemtuzumab, ocrelizumab, and rituximab