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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.

SUBMITTER: Hsu AP

PROVIDER: S-EPMC6051446 | biostudies-other | 2018 Jul

REPOSITORIES: biostudies-other

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

Hsu Amy P AP Zerbe Christa S CS Foruraghi Ladan L Iovine Nicole M NM Leiding Jennifer W JW Mushatt David M DM Wild Laurianne L Kuhns Douglas B DB Holland Steven M SM

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 20180701 3

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. ...[more]

PMID: 29534156

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