Participant characteristics: separated by those who underwent sequencing for GRID genes vs TG genes (note overlap as many underwent sequencing of both gene panels)
| . | GRID genes cohort (n = 50) . | TG genes cohort (n = 72) . | All patients (N = 80) . |
|---|---|---|---|
| Adults, n (%) | 35 (70.0) | 53 (73.6) | 54 (67.5) |
| Age at diagnosis, y | 30.0 (1-68) | 31.2 (1-75) | 29.5 (1-75) |
| Male, n (%) | 22 (44.0) | 32 (44.4) | 37 (46.3) |
| White, n (%) | 23 (46.0) | 34 (47.2) | 37 (46.3) |
| Black, n (%) | 5 (10.0) | 7 (9.7) | 7 (8.8) |
| Asian, n (%) | 8 (16.0) | 14 (19.4) | 16 (20.0) |
| Ethnicity not stated, n (%) | 8 (16.0) | 11 (15.3) | 13 (16.3) |
| Other/mixed ethnicity, n (%) | 6 (12.0) | 6 (8.3) | 7 (8.8) |
| Average platelet count nadir, ×109/L | 16.9 | 22.4 | 22.7 |
| Median number of treatment lines | 3.0 | 2.7 | 2.7 |
| Never required treatment, n (%) | 6 (12.0) | 17 (23.6) | 20 (25.0) |
| Complete response to treatment (platelet count >100 × 109 /L), n (%) | 30 (60) | 32 (44.4) | 34 (42.5) |
| Multirefractory phenotype, n (%) | 2 (4.0) | 5 (6.9) | 6 (7.5) |
| Treatment-free response (platelet count >100 × 109 /L more than 1 year since treatment), n (%) | 16 (32.0) | 21 (29.2) | 23 (28.8) |
| Previous splenectomy, n (%) | 7 (14.0) | 11 (15.2) | 13 (16.3) |
| Affected family member, n (%) | 3 (6.0) | 10 (13.9) | 11 (13.8) |
| Autoimmune neutropenia, n (%) | 9 (18.0) | 8 (11.1) | 11 (13.8) |
| Autoimmune hemolytic anemia (Evan syndrome), n (%) | 4 (8.0) | 5 (6.9) | 6 (7.5) |
| Antinuclear antigen positivity, n (%) | 14 (28.0) | 19 (26.4) | 20 (25.0) |
| Presence of other autoimmune condition, n (%) | 18 (36.0) | 25 (34.7) | 28 (35.0) |
| . | GRID genes cohort (n = 50) . | TG genes cohort (n = 72) . | All patients (N = 80) . |
|---|---|---|---|
| Adults, n (%) | 35 (70.0) | 53 (73.6) | 54 (67.5) |
| Age at diagnosis, y | 30.0 (1-68) | 31.2 (1-75) | 29.5 (1-75) |
| Male, n (%) | 22 (44.0) | 32 (44.4) | 37 (46.3) |
| White, n (%) | 23 (46.0) | 34 (47.2) | 37 (46.3) |
| Black, n (%) | 5 (10.0) | 7 (9.7) | 7 (8.8) |
| Asian, n (%) | 8 (16.0) | 14 (19.4) | 16 (20.0) |
| Ethnicity not stated, n (%) | 8 (16.0) | 11 (15.3) | 13 (16.3) |
| Other/mixed ethnicity, n (%) | 6 (12.0) | 6 (8.3) | 7 (8.8) |
| Average platelet count nadir, ×109/L | 16.9 | 22.4 | 22.7 |
| Median number of treatment lines | 3.0 | 2.7 | 2.7 |
| Never required treatment, n (%) | 6 (12.0) | 17 (23.6) | 20 (25.0) |
| Complete response to treatment (platelet count >100 × 109 /L), n (%) | 30 (60) | 32 (44.4) | 34 (42.5) |
| Multirefractory phenotype, n (%) | 2 (4.0) | 5 (6.9) | 6 (7.5) |
| Treatment-free response (platelet count >100 × 109 /L more than 1 year since treatment), n (%) | 16 (32.0) | 21 (29.2) | 23 (28.8) |
| Previous splenectomy, n (%) | 7 (14.0) | 11 (15.2) | 13 (16.3) |
| Affected family member, n (%) | 3 (6.0) | 10 (13.9) | 11 (13.8) |
| Autoimmune neutropenia, n (%) | 9 (18.0) | 8 (11.1) | 11 (13.8) |
| Autoimmune hemolytic anemia (Evan syndrome), n (%) | 4 (8.0) | 5 (6.9) | 6 (7.5) |
| Antinuclear antigen positivity, n (%) | 14 (28.0) | 19 (26.4) | 20 (25.0) |
| Presence of other autoimmune condition, n (%) | 18 (36.0) | 25 (34.7) | 28 (35.0) |