Table 2.
Demographic, clinical, and laboratory features of the main series combining adult and pediatric patients with R92Q-related disease.
| Hull et al. (10) | Ravet et al. (8) | Gattorno et al. (12)b | Lachmann et al. (5)c | Federici et al. (9)d | Ruiz-Ortiz et al. (present series) | |
|---|---|---|---|---|---|---|
| Demographic data | ||||||
| N | 9 | 34 | 15 | 54 | 78 | 18 |
| Sex (female/male) | 3/6 | 17/17 | – | – | 38/40 | 9/9 |
| Age at symptoms onset (years)a | 22 (<1–53) | 19 | 58 ± 64 | 6 (0–53) | 6 (3–19) | 12 (1–43) |
| Age at diagnosis (years)a | – | – | – | – | – | 16 (5–48) |
| Time from disease onset to diagnosis (years)a | – | – | – | – | 6.4 (3.4–25.9) | 3 (0.3–25) |
| Follow-up (years)a | – | – | – | – | 13 | 5.5 (1–10) |
| Positive family history (%) | – | 21 | 7 | 19 | – | 28 |
| Clinical features (%) | ||||||
| Fever (≥38°C) | 100 | 48 | 100 | 94 | 100 | 100 |
| Asthenia/fatigue | – | – | – | – | 72 | 44 |
| Arthralgia/arthritis | 89 | 48 | 17 | 66 | 65 | 61 |
| Myalgia | 89 | 48 | 53 | 66 | 28 | 39 |
| Abdominal pain | 56 | 39 | 60 | 66 | 59 | 39 |
| Vomiting | – | – | 40 | 26 | 26 | 6 |
| Chest (pleuro-pericardial) pain | 33 | 32 | 13 | 22 | 24 | 22 |
| Skin rash | 78 | 36 | 33 | 30 | 20 | 28 |
| Headache | – | 16 | 53 | 39 | 5 | 33 |
| Conjunctivitis | 100 | 6 | 13 | 17 | 20 | 17 |
| Periorbital edema | 78 | 12 | 7 | 17 | 19 | 11 |
| Cervical adenitis/lymphadenopathy | – | 19 | 60 | 25 | 26 | 17 |
| Pharyngitis/odynophagia | – | 12 | 67 | 24 | 22 | 33 |
| Oral aphthae | – | – | 40 | 14 | 15 | 17 |
| Attacks characteristics | ||||||
| Duration (days) | 16 (6–30) | 7.4 | 4.7 ± 3.7 | – | – | 11 (2–160) |
| Frequency (per year) | 11 (9–>12) | – | – | – | – | 6 (0.3–50) |
| Increased inflammatory markers during attacks (%) | 100 | 100 | – | – | – | 80 |
| Other studied genes (negative/performed) | – | MEFV (some positive) | MEFV, MVK | MEFV (22/22), MVK (11/11), NLRP3 (2/2) | – | MEFV (17/17), MVK (16/16), NLRP3 (14/14) |
| Amyloidosis development (%) | 0 | 6.2 | – | 0 | – | 0 |
aContinuous results as mean or median, plus SD or range (when available).
bData from 15 patients with TNFRSF1A low-penetrance variants; among them, 13 (87%) patients carried R92Q (12).
cData from 59 patients with TNFRSF1A P46L and R92Q variants; among them, 54 (91.5%) patients carried R92Q (5).
dData from 78 patients with TNFRSF1A low-penetrance mutations, no mutations or genetic test not done or P46L and R92Q variants; among them, 57 (73%) patients carried R92Q (9).