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.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, N.I.H., Intramural
MeSH terms
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Adult
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Ectodermal Dysplasia / complications*
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Ectodermal Dysplasia / microbiology
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Genetic Diseases, X-Linked / complications*
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Genetic Diseases, X-Linked / microbiology
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Humans
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I-kappa B Kinase / genetics*
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Immunologic Deficiency Syndromes / complications*
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Immunologic Deficiency Syndromes / microbiology
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Male
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Mutation
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Mycobacterium Infections / blood
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Mycobacterium Infections / genetics*
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Mycobacterium Infections / mortality
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Primary Immunodeficiency Diseases
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RNA Splice Sites*
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Signal Transduction
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Skin / microbiology
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Skin / pathology
Substances
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IKBKG protein, human
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RNA Splice Sites
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I-kappa B Kinase
Supplementary concepts
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NEMO mutation with immunodeficiency