IKBKG (NEMO) 5′ Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Inf...
IKBKG (NEMO) 5′ Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections
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Publisher
US: Oxford University Press
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Language
English
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Publisher
US: Oxford University Press
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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...
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Full title
IKBKG (NEMO) 5′ Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6051446
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6051446
Other Identifiers
ISSN
1058-4838
E-ISSN
1537-6591
DOI
10.1093/cid/ciy186
