Understanding DATA2 and Its Impact

DATA2, or deficiency of adenosine deaminase 2, is a significant but often underdiagnosed autoinflammatory condition that presents a variety of symptoms, including vasculitis, immunodeficiency, and bone marrow failure. The disease is not as rare as one might think, with estimates suggesting about 1 in 220,000 individuals may be affected. The condition results from mutations affecting the ADA2 enzyme, which plays a crucial role in the immune system. Early recognition is vital, as some patients can experience severe symptoms such as early onset strokes, necessitating a collaborative approach across various medical specialties for diagnosis and care.