Clinical data of patients with DADA2
| Features | Results |
|---|---|
| Males | 6/12 |
| Positive family history | 7/11a |
| Median age (years, range) at: | |
| Disease onset | 1.3 (0.25–7) |
| Genetic diagnosis | 15.5 (5–35) |
| Neurologic onset | 5.5 (0.5–12) |
| First stroke (n = 10) | 6.5 (1.4–12) |
| Symptoms at presentation | |
| Fever | 5/12 |
| Skin manifestations | 4/12 |
| Neurologic problems | 4/12 |
| Disease course | |
| Chronic | 11/12 |
| Recurrent | 1/12 |
| Manifestations | |
| Neurologic disorders | 12/12 |
| Hypertension | 12/12 |
| Elevation of acute phase reactants | 12/12 |
| Inflammatory skin lesions | 12/12 |
| Musculoskeletal disorders | 5/12 |
| Gastrointestinal abnormalities | 5/12 |
| Hypogammaglobulinemia | 5/12b |
| Cardiac abnormalities | 2/12 |
| Geneticsc | |
| Homozygous or compound hemizygous ADA2 variants | 11/12 |
| Homozygous tandem 22q.11.1 duplication | 1/12 |
| Skin/bowel biopsy | |
| Polyarteritis nodosa | 5/7 |
| Leukocytoclastic vasculitis | 2/7 |
| Treatmentd | |
| Anti-TNF | 9/12 |
| Thalidomide | 3/12 |