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 dissemin...

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Bibliographic Details
Published in:Clinical infectious diseases 2018-07, Vol.67 (3), p.456-459
Main Authors: Hsu, Amy P, Zerbe, Christa S, Foruraghi, Ladan, Iovine, Nicole M, Leiding, Jennifer W, Mushatt, David M, Wild, Laurianne, Kuhns, Douglas B, Holland, Steven M
Format: Article
Language:English
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Brief Reports
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Summary: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.
ISSN:1058-4838
1537-6591
DOI:10.1093/cid/ciy186