Varaico: Literature-Extracted Genetic Variants

Gene:NFKB2
Variant:p.R635*
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NFKB2

NM_001322934.2:p.R635*

Associated Papers

Type-Specific Impacts of Protein Defects in Pathogenic NFKB2 Variants: Novel Clinical Findings From 138 Patients.

Meissner J et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs.

Baran A et al.

Journal of Clinical Immunology, 2024

Disseminated Coccidioidomycosis as the First Presentation of a C-Terminal NFKB2 Pathogenic Variant: A Case Report and Review of the Literature.

Pérez Cavazos S et al.

The Pediatric Infectious Disease Journal, 2022

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

Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.

Tuijnenburg P et al.

Clinical Immunology (orlando, Fla.), 2019

A novel NFKB2 mutation in a Chinese patient with DAVID syndrome.

Xiao B et al.

Gene, 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

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

Kuehn HS et al.

Blood, 2017

Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.

Hoeger B et al.

Frontiers in Immunology, 2017

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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."