Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.C104Y
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TNFRSF13B

NM_012452.3:p.C104Y

Associated Papers

Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency.

Abolhassani H et al.

Journal of Human Immunity, 2025

Refractory Status Epilepticus Associated With a Pathogenic Variant in TNFRSF13B.

Yang JH et al.

Cureus, 2023

Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML treatment.

Tabak C et al.

Frontiers in Oncology, 2023

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.

Taha I et al.

Genes, 2022

35893049 (PubMed )
Supplement: genes-13-01314-s001.zip › genes-1798999-supplementary.xlsx › Table_S1_and_Table_S2

T-follicular helper cell expansion and chronic T-cell activation are characteristic immune anomalies in Evans syndrome.

Kumar D et al.

Blood, 2022

34424963 (PubMed )
Supplement: 10.1182-2021012924_bloodbld2021012924-suppl1.pdf

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Baxter SK et al.

The Journal of Allergy and Clinical Immunology, 2022

Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.

Naumova E et al.

Frontiers in Immunology, 2022

Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.

Miano M et al.

American Journal of Hematology, 2021

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

Simultaneous Identification of Cell of Origin, Translocations, and Hotspot Mutations in Diffuse Large B-Cell Lymphoma Using a Single RNA-Sequencing Assay.

Crotty R et al.

American Journal of Clinical Pathology, 2021

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

BAFF and BAFF-Receptor in B Cell Selection and Survival.

Smulski CR et al.

Frontiers in Immunology, 2018

Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.

Pulvirenti F et al.

Journal of Immunology Research, 2016

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations.

Freiberger T et al.

Human Immunology, 2012

Rare mutations in TNFRSF13B increase the risk of asthma symptoms in Swedish children.

Janzi M et al.

Genes and Immunity, 2012

Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency.

Mohammadi J et al.

Journal of Clinical Immunology, 2009

An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene.

Sazzini M et al.

Genes and Immunity, 2009

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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."