Importantly, neither in the families newly identified by us nor in the literature, heterozygous carriers of c.841C>T p.(Arg281Trp) displayed any SAVI-associated clinical pathology, and there were no signs of IFN activation in any heterozygous family members in all of the seven families (13, 14), supporting the notion that c.841C>T p.(Arg281Trp) truly causes AR SAVI. The gene discussed is IFNA1; the disease is STING-associated vasculopathy with onset in infancy.