A relevant example of phenotypic heterogeneity is the deficiency of adenosine deaminase 2 (DADA2): originally reported as a small-vessel vasculitis manifesting with polyarteritis nodosa, livedo racemosa, stroke, and mild immunodeficiency, the phenotype has significantly expanded to include pure red cell aplasia, other cytopenias, lymphoproliferation, and lymphoma14–30. The gene discussed is ADA2; the disease is stroke disorder.