Abstract
Inhibitory kappa B kinase beta (IKBKB, IKK2, or IKKβ ) acts as an activator of the nuclear factor (NF)-κ B 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 lethal immune deficiency. In this review, the clinical significance of IKBKB mutations will be reviewed in the context of immune deficiency syndromes. All published clinical cases of IKBKB mutations relevant to immune deficiency, either caused by loss- or gain-of-function mutations will be presented to provide a comprehensive overview of the genetic, clinical, and immunological patterns of these mutations. Finally, the challenges and future perspectives in the diagnosis and management of affected patients with this rare condition will be discussed.
Article Type
Review
First Page
418
Last Page
428
Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License
Recommended Citation
Almotiri, Alhomidi
(2026)
"Clinical Significance of IKBKB Mutations: A Focus on IKBKB-Related Immunodeficiency,"
Saudi Medical Journal: Vol. 47:
Iss.
3, Article 3.
DOI: https://doi.org/10.15537/1658-3175.1038