Autosomal recessive loss of function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), were recently described to cause a variable phenotype encompassing recurrent fevers, livedo reticularis, Raynaud’s phenomenon and digital necrosis, vascular aneurysms and stenoses, intestinal strictures, hepatosplenomegaly and hypogammaglobulinemia[1, 2]. The gene discussed is ADA2; the disease is Livedo reticularis.