Associated Papers
Human inborn errors of the alternative NF-κB pathway.
Le Voyer T et al.
Journal of Human Immunity, 2026
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
Riller Q et al.
The Journal of Experimental Medicine, 2025
Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.
Cildir G et al.
Nature Communications, 2024
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.
Riller Q et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
Cadieux-Dion M et al.
Bmc Medical Genetics, 2018
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Khandelwal KD et al.
American Journal of Medical Genetics. Part A, 2017
Periderm prevents pathological epithelial adhesions during embryogenesis.
Richardson RJ et al.
The Journal of Clinical Investigation, 2014
Mutant CHUK and severe fetal encasement malformation.
Lahtela J et al.
The New England Journal of Medicine, 2010
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