Immunodeficiency-45 (IMD45) is an autosomal recessive immunologic disorder with specific clinical features. Patients may present with life-threatening respiratory infections with COVID-19 or influenza and with severe adverse reactions (e.g., meningoencephalitis and hemophagocytic lymphohistiocytosis) to live attenuated viral vaccination. Laboratory studies show impaired response to alpha-interferon (see 147660), impaired type I interferon signature after stimulation, and heightened vulnerability to multiple viruses in vitro (summary by Duncan et al., 2015; Passarelli et al., 2020; Duncan et al., 2022). [from
OMIM]