Varaico: Literature-Extracted Genetic Variants

Gene:IKBKB
Variant:p.G431insFs
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IKBKB

NM_001556.3:p.G431insFs

Associated Papers

Case Report: A novel IKBKB variant (c.1705G>T) is associated with immune dysregulation and disseminated tuberculosis.

Arce-Estrada GE et al.

Frontiers in Immunology, 2025

A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023.

Al Ghamdi A et al.

Genes, 2024

Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.

Aluri J et al.

Cells, 2021

Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency.

Cuvelier GDE et al.

Clinical Immunology (orlando, Fla.), 2019

Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis.

Rubin TS et al.

Journal of Clinical Immunology, 2018

Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada.

Thompson JR et al.

International Journal of Neonatal Screening, 2018

2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2018

Hematopoietic stem cell transplantation for RelB deficiency.

Ovadia A et al.

The Journal of Allergy and Clinical Immunology, 2017

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

Gobin K et al.

Frontiers in Pediatrics, 2017

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M et al.

Genes and Immunity, 2015

IKK-related genetic diseases: probing NF-κB functions in humans and other matters.

Senegas A et al.

Cellular and Molecular Life Sciences : Cmls, 2015

Immunodeficiency associated with a nonsense mutation of IKBKB.

Nielsen C et al.

Journal of Clinical Immunology, 2014

Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases.

Jilkina O et al.

Molecular Genetics and Metabolism Reports, 2014

Deficiency of innate and acquired immunity caused by an IKBKB mutation.

Pannicke U et al.

The New England Journal of Medicine, 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."