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
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
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