Deficiency of Adenosine Deaminase 2: A Recently Described Autoinflammatory Disease with Neuro-Opthalmic Manifestations

Deficiency of Adenosine Deaminase Tye II (DAD2) is an autoinflammatory disease caused by mutations in the CECR1 gene yielding recurrent fever, livedo reticularis, neuro-ophthalmic and neurological symptoms. We analyzed published cases of DAD2 to provide broader characterization of the neurological manifestations of the disorder, and to assess for a relationship between CECR1 mutation location and neurological findings. We also report a 6-year-old boy who presented repeatedly over several years with a constellation of neuro-ophthlmic findings from DAD2.