Genotype, clinical, and laboratory features of the 5 patients with DADA2.
| Patients | Mutation | Clinical Features | Laboratory Features | Response to TNF Inhibition |
|---|---|---|---|---|
| 1 | T360A/R49Gfs*4 | Recurrent fever, livedo reticularis, arthralgia/arthritis, gastrointestinal | ↑ CRP, ↑ ESR | Complete clinical remission; normal CRP and ESR |
| 2 | Y453C/Y453C | Recurrent fever, livedo reticularis, arthralgia/arthritis, gastrointestinal | ↑ CRP, ↑ ESR | Complete clinical remission except persistence of mild livedo reticularis |
| 3 | L249P/P344L | Recurrent fever, livedo reticularis, ischemic events, seizures, deafness, arthralgia/arthritis, gastrointestinal | ↑ CRP, ↑ ESR | Complete clinical remission; persistent deafness; normal CRP and ESR |
| 4 | L249P/P344L | Fever, gastrointestinal | Low Ig levels, normal CRP, normal ESR | Complete clinical remission; no other febrile episodes |
| 5 | A45T/Y453C | Livedo reticularis | Mild elevation CRP, mild elevation ESR, ANA+ | Marked improvement of livedo reticularis; normal CRP and ESR |
DADA2: adenosine deaminase 2 deficiency; TNF: tumor necrosis factor; CRP: C-reactive protein; ESR: erythrocyte sedimentation rate; Ig: immunoglobulin; ANA: antinuclear antibodies.