Varaico: Literature-Extracted Genetic Variants

Gene:NFKB2
Variant:p.Y868*
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NFKB2

NM_001322934.2:p.Y868*

Associated Papers

Modeling corticotroph deficiency with pituitary organoids supports the functional role of NFKB2 in human pituitary differentiation.

Mac TT et al.

Elife, 2024

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

Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency.

Sundaram K et al.

Journal of Clinical Immunology, 2023

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 novel NFKB2 mutation in a Chinese patient with DAVID syndrome.

Xiao B et al.

Gene, 2019

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

Kuehn HS et al.

Blood, 2017

Novel NFKB2 mutation in early-onset CVID.

Liu Y et al.

Journal of Clinical Immunology, 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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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."