IKBKG (NEMO) 5′ Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections

AP Hsu, CS Zerbe, L Foruraghi… - Clinical Infectious …, 2018 - academic.oup.com
AP Hsu, CS Zerbe, L Foruraghi, NM Iovine, JW Leiding, DM Mushatt, L Wild, DB Kuhns…
Clinical Infectious Diseases, 2018academic.oup.com
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.
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.
Oxford University Press