Deficiency of adenosine deaminase 2
Deficiency of adenosine deaminase 2
Definition
A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered.
Also known as ADA2 deficiency, adenosine deaminase 2 deficiency, childhood-onset polyarteritis nodosa, DADA2, deficiency of adenosine deaminase 2, polyarteritis nodosa, childhood-onset, vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome — per MONDO