Article
The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.
Current rheumatology reports - 26 Aug 2020
Kendall Jennifer Lee, Springer Jason Michael
Abstract excerpt
PURPOSE OF REVIEW: We aim to describe the pathophysiology, clinical findings, diagnosis, and treatment of deficiency of adenosine deaminase 2 (DADA2). RECENT FINDINGS: DADA2 is a multi-organ disease of children and less often adults, which can present with wide-ranging manifestations including strokes, medium vessel vasculitis, hematologic disease, and immunodeficiency. Diagnosis is through detection of reduced...
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