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Article

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

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America - 18 Jul 2018

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 excerpt

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.

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Identifiers

PMID: 29534156
DOI: 10.1093/cid/ciy186
PMCID: PMC6051446

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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