Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.V220A
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TNFRSF13B

NM_012452.3:p.V220A

Associated Papers

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

Abolhassani H et al.

Journal of Human Immunity, 2025

TNFRSF13B/TACI Mutations in Patients with Chronic Rhinosinusitis with Nasal Polyps.

Tsiouma GK et al.

American Journal of Rhinology & Allergy, 2023

Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus.

Ortiz-Aljaro P et al.

Scientific Reports, 2022

Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.

Milardi G et al.

European Journal of Immunology, 2022

TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece.

Kakkas I et al.

Medicina (kaunas, Lithuania), 2021

The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).

Bisgin A et al.

Scientific Reports, 2021

33859323 (PubMed )
Supplement: 41598_2021_87898_MOESM2_ESM.pdf

Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

Torre-Fuentes L et al.

Cns Neuroscience & Therapeutics, 2020

32951330 (PubMed )
Supplement: CNS-26-1178-s002.xlsx › Hoja1

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

Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.

Stuchlý J et al.

Scientific Reports, 2017

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

Heterozygous alterations of TNFRSF13B/TACI in tonsillar hypertrophy and sarcoidosis.

Speletas M et al.

Clinical & Developmental Immunology, 2013

Three different classifications, B lymphocyte subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms in Turkish patients with common variable immunodeficiency.

Kutukculer N et al.

Journal of Clinical Immunology, 2012

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

Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency.

Almejún MB et al.

Journal of Clinical Immunology, 2012

TNFRSF13B/TACI alterations in Greek patients with antibody deficiencies.

Speletas M et al.

Journal of Clinical Immunology, 2011

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

He B et al.

Nature Immunology, 2010

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

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

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

TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency.

Karaca NE et al.

Avicenna Journal of Medical Biotechnology, 0

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