Deficiency of adenosine deaminase 2 (DADA2)STING-associated vasculopathy with onset in infancy (SAVI)Familial chilblain lupusAicardi-Goutières syndrome (AGS) 1-7Spodyloenchondrodysplasia with immune dysregulation (SPENCDI). The gene discussed is ADA2; the disease is Spondyloenchondrodysplasia with immune dysregulation.