Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BP2
Variant:p.S551N
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IRF2BP2

NM_182972.3:p.S551N

Associated Papers

An IRF2BP2 Variant in a Pediatric Patient with Common Variable Immunodeficiency.

Tekcan D et al.

Pediatric Allergy, Immunology, and Pulmonology, 2025

IRF2BP2 binds to a conserved RxSVI motif of protein partners and regulates megakaryocytic differentiation.

Wang G et al.

Nature Communications, 2024

Novel mutation and expanding phenotype in IRF2BP2 deficiency.

Körholz J et al.

Rheumatology (oxford, England), 2023

Case Report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders.

Pan Y et al.

Frontiers in Immunology, 2023

Novel frameshift variants expand the map of the genetic defects in IRF2BP2.

García-Aznar JM et al.

Frontiers in Immunology, 2023

IRF2BP2 Mutation Is Associated with Increased STAT1 and STAT5 Activation in Two Family Members with Inflammatory Conditions and Lymphopenia.

Palmroth M et al.

Pharmaceuticals (basel, Switzerland), 2021

Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2021

Recent advances in elucidating the genetics of common variable immunodeficiency.

Aggarwal V et al.

Genes & Diseases, 2020

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

Keller MD et al.

The Journal of Allergy and Clinical Immunology, 2016

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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."