Associated Papers
IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency.
Körholz J et al.
The Journal of Allergy and Clinical Immunology, 2025
Case Report: A novel IKBKB variant (c.1705G>T) is associated with immune dysregulation and disseminated tuberculosis.
Arce-Estrada GE et al.
Frontiers in Immunology, 2025
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
40225944 (PubMed )
Supplement: 9115364.f1.pdf
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.
Sacco K et al.
Journal of Clinical Immunology, 2023
Heterozygous IKKβ activation loop mutation results in a complex immunodeficiency syndrome.
Abbott J et al.
The Journal of Allergy and Clinical Immunology, 2021
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2018
Novel Lys63-linked ubiquitination of IKKβ induces STAT3 signaling.
Gallo LH et al.
Cell Cycle (georgetown, Tex.), 2014
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