Baseline clinical and laboratory characteristics of patients with and without VEXAS
| . | UBA1-mutated cohort (n = 11) . | UBA1-WT cohort (n = 8) . | P . |
|---|---|---|---|
| Demographic characteristics | |||
| Male sex, n (%) | 11 (100) | 8 (100) | >.99 |
| Age (y), median (range) | 66 (47-83) | 60 (50-83) | .384 |
| Key clinical features | |||
| Arthritis or arthralgia, n (%) | 11 (100) | 2 (25) | .001 |
| Skin lesion, n (%) | 11 (100) | 6 (75) | .164 |
| Fever, n (%) | 10 (91) | 5 (63) | .262 |
| Vasculitis (all localization), n (%) | 7 (64) | 2 (25) | .170 |
| Ear or nose chondritis, n (%) | 5 (46) | 0 | .045 |
| Ocular involvement, n (%) | 5 (46) | 1 (13) | .177 |
| Pulmonary infiltrate, n (%) | 5 (46) | 1 (13) | .177 |
| Unprovoked deep vein thrombosis, n (%) | 4 (36) | 0 | .103 |
| Spleen or liver enlargement, n (%) | 3 (27) | 0 | .228 |
| Orchitis, n (%) | 3 (27) | 0 | .228 |
| Previously retained diagnosis | |||
| Relapsing polychondritis, n (%) | 5 (46) | 0 | .045 |
| Sweet syndrome, n (%) | 5 (46) | 4 (50) | >.99 |
| Polyarteritis nodosa, n (%) | 1 (9) | 0 | >.99 |
| Adult-onset Still disease, n (%) | 1 (9) | 0 | >.99 |
| Rheumatoid arthritis, n (%) | 1 (9) | 0 | >.99 |
| Laboratory finding | |||
| CRP (mg/L), median (range) | 114 (16.7-205) | 109 (0.9-200) | .238 |
| Median ferritin (mg/L), median (range) | 597.5 (134-2268) | 582 (211-879) | .540 |
| Macrocytic anemia, n (%) | 7 (64) | 1 (13) | .059 |
| Bone marrow aspirate | |||
| MDS according to WHO criteria, n (%) | 6 (55) | 5 (63) | >.99 |
| Somatic UBA1 mutations (NM_003334.3) | |||
| c.121A→G (p.Met41Val), n (%) | 3 (27) | — | |
| c.121A→C (p.Met41Leu), n (%) | 1 (9) | — | |
| c.122T→C (p.Met41Thr), n (%) | 5 (46) | — | |
| Splice motif mutation, n (%) | 2 (18) | — | |
| Outcome | |||
| Follow-up (mo), median (IQR) | 25.1 (14.4-86.0) | — | |
| Death, n (%) | 3 (27) | — |
| . | UBA1-mutated cohort (n = 11) . | UBA1-WT cohort (n = 8) . | P . |
|---|---|---|---|
| Demographic characteristics | |||
| Male sex, n (%) | 11 (100) | 8 (100) | >.99 |
| Age (y), median (range) | 66 (47-83) | 60 (50-83) | .384 |
| Key clinical features | |||
| Arthritis or arthralgia, n (%) | 11 (100) | 2 (25) | .001 |
| Skin lesion, n (%) | 11 (100) | 6 (75) | .164 |
| Fever, n (%) | 10 (91) | 5 (63) | .262 |
| Vasculitis (all localization), n (%) | 7 (64) | 2 (25) | .170 |
| Ear or nose chondritis, n (%) | 5 (46) | 0 | .045 |
| Ocular involvement, n (%) | 5 (46) | 1 (13) | .177 |
| Pulmonary infiltrate, n (%) | 5 (46) | 1 (13) | .177 |
| Unprovoked deep vein thrombosis, n (%) | 4 (36) | 0 | .103 |
| Spleen or liver enlargement, n (%) | 3 (27) | 0 | .228 |
| Orchitis, n (%) | 3 (27) | 0 | .228 |
| Previously retained diagnosis | |||
| Relapsing polychondritis, n (%) | 5 (46) | 0 | .045 |
| Sweet syndrome, n (%) | 5 (46) | 4 (50) | >.99 |
| Polyarteritis nodosa, n (%) | 1 (9) | 0 | >.99 |
| Adult-onset Still disease, n (%) | 1 (9) | 0 | >.99 |
| Rheumatoid arthritis, n (%) | 1 (9) | 0 | >.99 |
| Laboratory finding | |||
| CRP (mg/L), median (range) | 114 (16.7-205) | 109 (0.9-200) | .238 |
| Median ferritin (mg/L), median (range) | 597.5 (134-2268) | 582 (211-879) | .540 |
| Macrocytic anemia, n (%) | 7 (64) | 1 (13) | .059 |
| Bone marrow aspirate | |||
| MDS according to WHO criteria, n (%) | 6 (55) | 5 (63) | >.99 |
| Somatic UBA1 mutations (NM_003334.3) | |||
| c.121A→G (p.Met41Val), n (%) | 3 (27) | — | |
| c.121A→C (p.Met41Leu), n (%) | 1 (9) | — | |
| c.122T→C (p.Met41Thr), n (%) | 5 (46) | — | |
| Splice motif mutation, n (%) | 2 (18) | — | |
| Outcome | |||
| Follow-up (mo), median (IQR) | 25.1 (14.4-86.0) | — | |
| Death, n (%) | 3 (27) | — |
CRP, C-reactive protein; IQR, interquartile range; MCV, mean corpuscular volume; MDS, myelodysplastic syndrome; WHO, World Health Organization.