Table 1.

Genotype, clinical, and laboratory features of the 5 patients with DADA2.

PatientsMutationClinical FeaturesLaboratory FeaturesResponse to TNF Inhibition
1T360A/R49Gfs*4Recurrent fever, livedo reticularis, arthralgia/arthritis, gastrointestinal↑ CRP, ↑ ESRComplete clinical remission; normal CRP and ESR
2Y453C/Y453CRecurrent fever, livedo reticularis, arthralgia/arthritis, gastrointestinal↑ CRP, ↑ ESRComplete clinical remission except persistence of mild livedo reticularis
3L249P/P344LRecurrent fever, livedo reticularis, ischemic events, seizures, deafness, arthralgia/arthritis, gastrointestinal↑ CRP, ↑ ESRComplete clinical remission; persistent deafness; normal CRP and ESR
4L249P/P344LFever, gastrointestinalLow Ig levels, normal CRP, normal ESRComplete clinical remission; no other febrile episodes
5A45T/Y453CLivedo reticularisMild 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.