We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
IKBKG (NEMO) 5′ Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections.
- 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
- 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.
- Subjects
CYTOKINES; GENETIC mutation; MYCOBACTERIAL diseases; TOLL-like receptors; SEQUENCE analysis; GENETICS
- Publication
Clinical Infectious Diseases, 2018, Vol 67, Issue 3, p456
- ISSN
1058-4838
- Publication type
Article
- DOI
10.1093/cid/ciy186