Associated Papers
Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.
Fathi N et al.
Journal of Clinical Immunology, 2024
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
A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
Kuehn HS et al.
Journal of Clinical Immunology, 2020
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
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
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.
Klemann C et al.
Frontiers in Immunology, 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
Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies.
Coopmans EC et al.
Frontiers in Immunology, 2019
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Kuehn HS et al.
Blood, 2017
A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.
Lal RA et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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