IKBKG (NEMO) 5′ untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections

Abstract

Four patients with adult-onset, disseminated mycobacterial infection had 5′ UTR mutations in IKBKG without clear physical stigmata of NEMO deficiency. These mutations caused decreased levels of NEMO protein and Toll-like receptor driven cytokine production. Three patients died from disseminated disease. These mutations may be missed by whole exome sequencing.