IKBKG (NEMO) 5′ Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections | Zendy

Amy P. Hsu | Zendy; Christa S. Zerbe | Zendy; Ladan Foruraghi | Zendy; Nicole M. Iovine | Zendy; Jennifer W. Leiding | Zendy; David Mushatt | Zendy; Laurianne G. Wild | Zendy; Douglas B. Kuhns | Zendy; Steven M. Holland | Zendy

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

Author(s) -

Amy P. Hsu,

Christa S. Zerbe,

Ladan Foruraghi,

Nicole M. Iovine,

Jennifer W. Leiding,

David Mushatt,

Laurianne G. Wild,

Douglas B. Kuhns,

Steven M. Holland

Publication year - 2018

Publication title -

clinical infectious diseases

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 3.44

H-Index - 336

eISSN - 1537-6591

pISSN - 1058-4838

DOI - 10.1093/cid/ciy186

Subject(s) - medicine , untranslated region , mutation , splice , exome sequencing , immunology , genetics , gene , biology , messenger rna

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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