Associated Papers
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.
Sacco K et al.
Journal of Clinical Immunology, 2023
Plasma Metagenomic Sequencing Expedites Diagnosis of Disseminated BCG in an Infant With IKBKB Mutation.
Taylor MG et al.
The Pediatric Infectious Disease Journal, 2022
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5
A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency.
Qin T et al.
Frontiers in Immunology, 2020
IKK-related genetic diseases: probing NF-κB functions in humans and other matters.
Senegas A et al.
Cellular and Molecular Life Sciences : Cmls, 2015
A nonsense mutation in IKBKB causes combined immunodeficiency.
Mousallem T et al.
Blood, 2014
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