IKBKG (NEMO) 5' Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 29534156.
- Also identified by DOI 10.1093/cid/ciy186 and PMC identifier 6051446.
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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.
Medical subject headings
- Ectodermal Dysplasia
- Genetic Diseases, X-Linked
- I-kappa B Kinase
- Immunologic Deficiency Syndromes
- Mycobacterium Infections
- RNA Splice Sites