Article
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.
The Journal of allergy and clinical immunology - 1 Sept 2004
Orange Jordan S, Levy Ofer, Brodeur Scott R, Krzewski Konrad, Roy Rene M, Niemela Julie E, Fleisher Thomas A, Bonilla Francisco A, Geha Raif S
Abstract excerpt
BACKGROUND: 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...
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