Table 1.
Baseline characteristics of 16 patients with monogenic autoinflammatory diseases treated with thalidomide
| Characteristics (n, %) | AGS | Blau syndrome | CINCA | DADA2 | FMF | HA20 | PLAID | SAVI | TRAPS | Total |
|---|---|---|---|---|---|---|---|---|---|---|
| Num | 3 (18.75) | 4 (25.0) | 2 (12.50) | 1 (6.25) | 1 (6.25) | 2 (12.50) | 1 (6.25) | 1 (6.25) | 1 (6.25) | 16 (100.0) |
| Gender | ||||||||||
| Female | 2 (25.0) | 2 (25.0) | 1 (12.50) | 1 (12.50) | 0 | 1 (12.50) | 1 (12.50) | 0 | 0 | 8 (50.0) |
| Male | 1 (12.50) | 2 (25.0) | 1 (12.50) | 0 | 1 (12.50) | 1 (12.50) | 0 | 1 (12.50) | 1(12.50) | 8 (50.0) |
| Clinical manifestations | ||||||||||
| Fever | 0 | 1 (12.50) | 1 (12.50) | 1 (12.50) | 0 | 2 (25.0) | 1 (12.50) | 1 (12.50) | 1 (12.50) | 8 (50.0) |
| Rash | 2 (16.67) | 4 (33.33) | 2 (16.67) | 1 (8.33) | 0 | 1 (8.33) | 1 (8.33) | 1 (8.33) | 0 | 12 (75.0) |
| Growth or intellectual disability | 1 (16.67) | 2 (33.33) | 2 (33.33) | 0 | 0 | 0 | 0 | 1 (16.67) | 0 | 6 (37.50) |
| Gastrointestinal involvement | 1 (16.67) | 0 | 1 (16.67) | 1 (16.67) | 1 (16.67) | 1 (16.67) | 1 (16.67) | 0 | 0 | 6 (37.50) |
| Respiratory involvement | 2 (28.57) | 0 | 2 (28.57) | 0 | 0 | 1 (14.29) | 1 (14.29) | 1 (14.29) | 0 | 7 (43.75) |
| Cardiovascular involvement | 1 (14.29) | 3 (42.86) | 2 (28.57) | 0 | 0 | 0 | 1 (14.29) | 0 | 0 | 7(43. 75) |
| Joint involvement | 1 (33.33) | 2 (66.67) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3 (18.75) |
| Eye or ear involvement | 1 (14.29) | 4 (57.14) | 2 (28.57) | 0 | 0 | 0 | 0 | 0 | 0 | 7 (43. 75) |
| Hematologic involvement | 2 (28.57) | 1 (14.29) | 2 (28.57) | 1 (14.29) | 0 | 0 | 1 (14.29) | 0 | 0 | 7 (43. 75) |
| Neurologic involvement | 1 (20.0) | 1 (20.0) | 2 (40.0) | 1 (20.0) | 0 | 0 | 0 | 0 | 0 | 5 (31.25) |
| Hypothyroidism | 1(50.0) | 0 | 0 | 0 | 0 | 1(50.0) | 0 | 0 | 0 | 2 (12.50) |
| Autoantibody positivity | 2 (33.33) | 1 (16.67) | 0 | 0 | 0 | 1 (16.67) | 1 (16.67) | 1 (16.67) | 0 | 6 (37.50) |
| Elevated CRP | 0 | 3 (27.27) | 2 (18.18) | 1 (9.09) | 1 (9.09) | 1 (9.09) | 1 (9.09) | 1 (9.09) | 1 (9.09) | 11 (68.75) |
| Elevated ESR | 2 (22.22) | 2 (22.22) | 1 (11.11) | 1 (11.11) | 0 | 1 (11.11) | 0 | 1 (11.11) | 1 (11.11) | 9 (56.25) |
| Treatment before the addition of thalidomide | ||||||||||
| Glucocorticoids | 3 (27.27) | 2 (18.18) | 2 (18.18) | 1 (9.09) | 1 (9.09) | 0 | 1 (9.09) | 1 (9.09) | 0 | 11 (68.75) |
| Immunosuppressive agents | 3 (25.0) | 3 (25.0) | 1 (8.33) | 1 (8.33) | 1 (8.33) | 1 (8.33) | 0 | 1 (8.33) | 1 (8.33) | 12 (75.0) |
| Janus Kinase Inhibitors | 3 (75.0) | 0 | 0 | 0 | 0 | 0 | 0 | 1 (25.0) | 0 | 4 (25.0) |
| MTX | 0 | 3 (60.0) | 1 (20.0) | 1 (20.0) | 0 | 0 | 0 | 0 | 0 | 5 (31.25) |
| Others | 0 | 0 | 0 | 0 | 1a (33.33) | 1b (33.33) | 0 | 0 | 1a (33.3) | 3 (18.75) |
| Biologics | 0 | 1 (50.0)c | 0 | 1 (50.0)d | 0 | 0 | 0 | 0 | 0 | 2 (12.50) |
n (%) represents the number of positive cases in each disease category (number of positive cases in each disease category/total number of positive cases × 100%)
DADA2 adenosine deaminase 2 deficiency, PLAID PLCγ2-associated antibody deficiency and immune dysregulation, MTX Methotrexate
aColchicine
bHydroxychloroquine
cEtanercept
dTocilizumab