To establish if a genetic cause of the disease was present, a targeted panel of genes related to primary immunodeficiencies was analyzed, revealing the presence of a de novo missense variant in the STING1 gene (c.806T>C; p.Phe269Ser) (Fig. 1, C and D), which led to the diagnosis of SAVI disease. Here, STING1 is linked to STING-associated vasculopathy with onset in infancy.