Varaico: Literature-Extracted Genetic Variants

Gene:NFKB2
Variant:p.A867fs
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NFKB2

NM_001322934.2:p.A867fs

Associated Papers

Intrinsic functional defects in B cells of patients with NFKB2 mutations.

Min Q et al.

Clinical and Experimental Immunology, 2025

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

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

NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature.

Shi C et al.

Medicine, 2016

Combined immune deficiency in a patient with a novel NFKB2 mutation.

Lindsley AW et al.

Journal of Clinical Immunology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."