Varaico: Literature-Extracted Genetic Variants

Gene:NFKB2
Variant:p.T852_K855delFs
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NFKB2

NM_001322934.2:p.T852_K855delFs

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

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

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.

Brue T et al.

Bmc Medical Genetics, 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."