Human nuclear factor κB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia
JS Orange, O Levy, SR Brodeur, K Krzewski… - Journal of allergy and …, 2004 - Elsevier
BACKGROUND: Many receptors rely on the appropriate activation of nuclear factor (NF) κB
to induce cellular function. This process depends critically on the phosphorylation of the
inhibitor of NF-κB (IκB) by the IκB kinase. This targets IκB for ubiquitination and degradation,
allowing NF-κB to translocate to the nucleus, where it can direct transcription. Hypomorphic
human mutations affecting one IκB kinase component, the NF-κB essential modulator
(NEMO), result in impaired signaling from receptors required for ectodermal development …
to induce cellular function. This process depends critically on the phosphorylation of the
inhibitor of NF-κB (IκB) by the IκB kinase. This targets IκB for ubiquitination and degradation,
allowing NF-κB to translocate to the nucleus, where it can direct transcription. Hypomorphic
human mutations affecting one IκB kinase component, the NF-κB essential modulator
(NEMO), result in impaired signaling from receptors required for ectodermal development …