Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

▶ Autosomal recessive complete loss-of-function STAT1 deficiency predisposes to mycobacterial and viral diseases. ▶ Autosomal recessive partial loss-of-function STAT1 deficiency predisposes to mild mycobacterial and viral diseases. ▶ Autosomal dominant loss-of-function STAT1 deficiency predisposes to mycobacterial disease. ▶ Autosomal dominant gain-of-function STAT1 disorder predisposes to chronic mucocutaneous disease.