Clinical Significance of IKBKB Mutations: A Focus on IKBKB-Related Immunodeficiency.

Abstract excerpt

Inhibitory kappa B kinase beta (IKBKB, IKK2, or IKKβ) acts as an activator of the nuclear factor (NF)-κB signaling cascade that is involved in regulating normal physiological processes and is dysregulated in several pathological processes including immunological disorders. Mutations in IKBKB have been found to cause immune deficiency syndromes. Inherited loss-of-function mutations in IKBKB lead to severe or...

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