Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.R72H
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TNFRSF13B

NM_012452.3:p.R72H

Associated Papers

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

Abolhassani H et al.

Journal of Human Immunity, 2025

A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms.

Li J et al.

International Journal of Laboratory Hematology, 2025

Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Guevara-Hoyer K et al.

Frontiers in Immunology, 2022

35990641 (PubMed )
Supplement: DataSheet_2.xlsx › Supp_Table_1

[TNFRSF13B gene mutation in adult patient with common variable immunodeficiency. Case report].

Sviridov PS et al.

Terapevticheskii Arkhiv, 2021

Cell-Free Total Nucleic Acid-Based Genotyping of Aggressive Lymphoma: Comprehensive Analysis of Gene Fusions and Nucleotide Variants by Next-Generation Sequencing.

Mokánszki A et al.

Cancers, 2021

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 2021

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_2.xlsx › Table_E2_Previously_undiagnosed

Clonal and constricted T cell repertoire in Common Variable Immune Deficiency.

Ramesh M et al.

Clinical Immunology (orlando, Fla.), 2017

Monogenic mutations associated with IgA deficiency.

Abolhassani H et al.

Expert Review of Clinical Immunology, 2016

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

Pulvirenti F et al.

Journal of Immunology Research, 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

Genetics of common variable immunodeficiency: role of transmembrane activator and calcium modulator and cyclophilin ligand interactor.

Sathkumara HD et al.

International Journal of Immunogenetics, 2015

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

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88.

He B et al.

Nature Immunology, 2010

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.

Salzer U et al.

Blood, 2009

Common variable immunodeficiency: a new look at an old disease.

Park MA et al.

Lancet (london, England), 2008

Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes.

Zhang L et al.

The Journal of Allergy and Clinical Immunology, 2007

High serum levels of BAFF, APRIL, and TACI in common variable immunodeficiency.

Knight AK et al.

Clinical Immunology (orlando, Fla.), 2007

Sequence analysis of TNFRSF13b, encoding TACI, in patients with systemic lupus erythematosus.

Salzer U et al.

Journal of Clinical Immunology, 2007

CTLA-4 gene exon-1 +49 A/G polymorphism: lack of association with autoimmune disease in patients with common variable immune deficiency.

Knight AK et al.

Journal of Clinical Immunology, 2007

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

Salzer U et al.

Nature Genetics, 2005

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