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
Clinical Infectious Diseases, 2018•academic.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.
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