Associated Papers
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
Nakatani N et al.
Human Genome Variation, 2024
Genetics and clinical phenotypes in common variable immunodeficiency.
Cunningham-Rundles C et al.
Frontiers in Genetics, 2023
38274105 (PubMed )
Supplement: DataSheet1.PDF
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Li J et al.
The Journal of Experimental Medicine, 2021
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
Tuijnenburg P et al.
The Journal of Allergy and Clinical Immunology, 2018
NFKB1 regulates human NK cell maturation and effector functions.
Lougaris V et al.
Clinical Immunology (orlando, Fla.), 2017
Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.
Hoeger B et al.
Frontiers in Immunology, 2017
Extramedullary myeloma whole genome sequencing reveals novel mutations in Cereblon, proteasome subunit G2 and the glucocorticoid receptor in multi drug resistant disease.
Egan JB et al.
British Journal of Haematology, 2013
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