Varaico: Literature-Extracted Genetic Variants

Gene:NFKB2
Variant:p.D865_A867delFs
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NFKB2

NM_001322934.2:p.D865_A867delFs

Associated Papers

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

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

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

de Valles-Ibáñez G et al.

Frontiers in Immunology, 2018

29867916 (PubMed )
Supplement: data_sheet_1.PDF

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

Shi C et al.

Medicine, 2016

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S1

Novel NFKB2 mutation in early-onset CVID.

Liu Y 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."