An increasing number of genetic diseases belonging to this family have later been discovered, including the Proteasome Associated Autoinflammatory Syndromes (PRAAS), IFN-stimulated gene 15 (ISG15) deficiency, Singleton-Merten syndrome and its atypical presentation (SMS), and stimulator of IFN genes (STING)-associated vasculopathy with onset in infancy (SAVI). The gene discussed is STING1; the disease is Singleton-Merten dysplasia.