The characteristics of patients with DADA2.
| Characteristics | Patient 1 | Patient 2 | Patient 3, Sibling of Patient 2 | Patient 4 | Patient 5 | Patient 6 |
|---|---|---|---|---|---|---|
| Sex | Female | Female | Male | Male | Male | Female |
| Fever | Yes | Yes | Yes | Yes | Yes | Yes |
| Myalgia/arthralgia | Yes | Yes | Yes | Yes | Yes | Yes |
| CNS | No | Stroke | Stroke | Stroke | No | No |
| Skin | LR | LR, EN | LR, EN | LR, EN, necrotic ulcers | LR, EN, necrotic ulcers | LR |
| Eye | No | Strabismus | No | Optic neuritis | Strabismus | No |
| Hematological | No | No | MAS | No | Myelofibrosis | No |
| Immunological | Ig normal | Low IgM | Low IgM | Ig normal | Ig normal | Ig normal |
| Renal | No | No | No | FSGS, collapsing variant | AA amyloidosis | No |
| Gastrointestinal | Abdominal pain | Abdominal pain | Abdominal pain, bowel perforation | Abdominal pain, hypertransaminasemia | Abdominal pain, HSM, pancreatitis, amyloidosis | Abdominal pain |
| Autoantibodies | ANA 1/320 | ANA 1/320, RF, LA-positive |
DADA2: deficiency of adenosine deaminase 2; CNS: central nervous system; LR: livedo racemosa; EN: erythema nodosum; MAS: macrophage activation syndrome; Ig: immunoglobulin; FSGS: focal and segmental glomerulosclerosis; HSM: hepatosplenomegaly; ANA: antinuclear antibody; RF: rheumatoid factor; LA: lupus anticoagulant; AA amyloidosis: secondary amyloidosis.