The clinical phenotype of human ADA2 deficiency includes not only recurrent fevers and vasculitis (ranging from livedo racemosa to polyarteritis nodosa and lacunar stroke) but also immunodeficiency and cytopenia, either due to autoimmunity or bone marrow (BM) failure and hematological malignancy [3–5]. This evidence concerns the gene ADA2 and immunodeficiency disease.