Differential response to anakinra and adalimumab in a patient with DADA2 syndrome

Deficiency of adenosine deiminase 2 (DADA2) syndrome is a recently described autosomal recessively inherited autoinflammatory disorder associated with missense mutations in CECR1 gene. Clinical manifestations include early onset stroke, livedoid vascular changes, and a vasculopathy mimicking classical polyarteritis nodosa (cPAN) characterized by microaneurysms and associated inflammatory findings. We herein describe a male patient with homozygous G47R mutation in the CECR1 gene, whose inflammatory findings did not respond to immunosuppressive treatments and recombinant IL-1 receptor antagonist, anakinra injections, but controlled with adalimumab.