Table 2.
Efficacy and safety of ruxolitinib in the treatment of patients with interferonopathies
| Study ID (reference) | Disease (no. of study patients) | Sex/age at enrollment/age at disease onset | Previous treatmenta | Mutation | Dosage/duration of treatment/association with steroids | Efficacy/time to achieve clinical improvement | Safety |
|---|---|---|---|---|---|---|---|
| 2 [10] | FCh-L (1) |
Female 3 years 6 months |
HCQ, MTX, GLC | Dominant negative heterozygous mutation in TREX1 (c.52G > A, p.D18N) |
10 mg/24 h 12 months No |
Yes One week |
None referred |
| 3 [24] | SAVI (1) |
Female 4 years 12 months |
GLC, MCF, anti-CD20 | TMEM173 V155M |
2.5 mg/12 h 18 months Yes |
Yes NA |
Papillary edema |
| SAVI (2) |
Male 8 years 2 months |
GLC, MCF, MTX, CCH, HCQ, anti-CD20 | TMEM173 V147M |
5 mg/12 h, then 10 mg/12 h 6 months Yes |
Yes NA |
None referred | |
| SAVI (3) |
Male 12 years 12 months |
GLC, HCQ | TMEM173 V155M |
5 mg/12 h, then10 mg /12 h 6 months Yes (1 month) |
Yes NA |
None referred | |
| 6 [25] | SAVI (1) |
Male 18 years Early infancy |
NA | TMEM173 C206G |
5–20 mg/24 h NA NA |
Yes (cutaneous not systemic) NA |
Lung dysfunction /patient died |
| 10 [9] | SAVI (1) |
Male 3 years 2 months |
IVIG, prednisone | TMEM173 R284G |
5 mg/24 h 12 months Yes |
Yes NA |
None referred |
| 16 [13] | SAVI (1) |
Female 10 years 8 months |
AZA, ETA, GLC | TMEM173 V155M |
0.3–0.6 mg/kg/24 h 32 months NA |
Yes One week |
BK viruria |
| SAVI (2) |
Female 8 years 3 months |
MTX, IFX, GLC |
TMEM173 R281Q |
0.25–0.7 mg/kg/24 h 18 months NA |
Yes One week |
Respiratory infections, worsening lung interstitial disease |
|
| SAVI (3) |
Female 2 years 3 days |
GLC | TMEM173 N154S |
0.45–1.3 mg/kg/day 6 months NA |
Yes One week |
Relapse in pulmonary symptoms |
aAnti-CD20 Anti-CD20 monoclonal antibodies, CCH colchicine, ETA etanercept, IVIG intravenous immunoglobuline, NA not available
bPrevious treatment with JAK/STAT pathway inhibitors is underlined