1. IKBKG (NEMO) 5' Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections.
- Author
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Hsu AP, Zerbe CS, Foruraghi L, Iovine NM, Leiding JW, Mushatt DM, Wild L, Kuhns DB, and Holland SM
- Subjects
- Adult, Ectodermal Dysplasia microbiology, Genetic Diseases, X-Linked microbiology, Humans, Immunologic Deficiency Syndromes microbiology, Male, Mutation, Mycobacterium Infections blood, Mycobacterium Infections mortality, Primary Immunodeficiency Diseases, Signal Transduction, Skin microbiology, Skin pathology, Ectodermal Dysplasia complications, Genetic Diseases, X-Linked complications, I-kappa B Kinase genetics, Immunologic Deficiency Syndromes complications, Mycobacterium Infections genetics, RNA Splice Sites
- 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.
- Published
- 2018
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