Associated Papers
Intrinsic functional defects in B cells of patients with NFKB2 mutations.
Min Q et al.
Clinical and Experimental Immunology, 2025
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T et al.
Nature, 2023
37938781 (PubMed )
Supplement: 41586_2023_6717_MOESM1_ESM.pdf
Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports.
Mac TT et al.
Journal of Neuroendocrinology, 2023
Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility.
Wirasinha RC et al.
The Journal of Experimental Medicine, 2021
Central Diabetes Insipidus in a Patient With NFKB2 Mutation: Expanding the Endocrine Phenotype in DAVID Syndrome.
Nasomyont N et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.
Slade CA et al.
Journal of Clinical Immunology, 2019
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2019
Psoriasiform dermatitis associated with common variable immunodeficiency 10 due to an Arg853* mutation in the NFKB2 gene.
Nagai M et al.
The Journal of Dermatology, 2019
Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.
Aird A et al.
Frontiers in Pediatrics, 2019
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature.
Shi C et al.
Medicine, 2016
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Singleton MV et al.
American Journal of Human Genetics, 2014
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Chen K et al.
American Journal of Human Genetics, 2013
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