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• W2019683122 abstract "Many receptors rely on the appropriate activation of nuclear factor (NF) kappa B to induce cellular function. This process depends critically on the phosphorylation of the inhibitor of NF-kappa B (I kappa B) by the I kappa B kinase. This targets I kappa B for ubiquitination and degradation, allowing NF-kappa B to translocate to the nucleus, where it can direct transcription. Hypomorphic human mutations affecting one I kappa B kinase component, the NF-kappa B essential modulator (NEMO), result in impaired signaling from receptors required for ectodermal development and immune function. Male subjects with these mutant NEMO molecules have an X-linked syndrome known as ectodermal dysplasia with immunodeficiency, which is characterized by severe infections, with herpesviruses, bacteria, and mycobacterial susceptibility.We sought to genetically and biochemically characterize a patient with a mutant NEMO molecule without ectodermal abnormalities.We evaluated NEMO in a patient who had immunodeficiency and atypical mycobacterial infection but normal ectoderm.We identified a novel NEMO mutant causing immunodeficiency without ectodermal dysplasia. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal and hematopoetic origin and resulted in a heterogeneous mixture of mutant and wild-type cDNA species. Immunologic function was variably impaired, with reduced CD40-induced B-cell proliferation, partially reduced NF-kappa B p65 nuclear translocation, and variable Toll-like receptor-induced TNF production. This variability might be explained by an inconsistent ratio of mutant to wild-type NEMO. The lack of any ectodermal phenotype, however, suggested a separation in the hematopoetic and ectodermal function of NEMO that leads to NF-kappa B activation.Mutation of the gene encoding NEMO can result in immunodeficiency without ectodermal dysplasia." @default.
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• W2019683122 date "2004-09-01" @default.
• W2019683122 modified "2023-09-26" @default.
• W2019683122 title "Human nuclear factor κB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia" @default.
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• W2019683122 doi "https://doi.org/10.1016/j.jaci.2004.06.052" @default.
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