Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.L171R
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TNFRSF13B

NM_012452.3:p.L171R

Associated Papers

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

Abolhassani H et al.

Journal of Human Immunity, 2025

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Genetics in a Danish Common Variable Immunodeficiency Cohort.

Drabe CH et al.

Journal of Clinical Immunology, 2025

Novel heterozygous mutations of TNFRSF13B in EBV-associated T/NK lymphoproliferative diseases (EBV-T/NK-LPDs).

Deng X et al.

Blood Science (baltimore, Md.), 2024

38226020 (PubMed )
Supplement: bs9-6-e00180-s003.pdf

Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort.

Sanchez DA et al.

Frontiers in Immunology, 2023

Genetics and clinical phenotypes in common variable immunodeficiency.

Cunningham-Rundles C et al.

Frontiers in Genetics, 2023

38274105 (PubMed )
Supplement: DataSheet1.PDF

Variable immunodeficiency study: Evaluation of two European cohorts within a variety of clinical phenotypes.

Guevara-Hoyer K et al.

Immunology Letters, 2020

Current genetic landscape in common variable immune deficiency.

Abolhassani H et al.

Blood, 2020

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

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

TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes.

Martinez-Gallo M et al.

The Journal of Allergy and Clinical Immunology, 2013

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

Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency.

Fried AJ et al.

The Journal of Allergy and Clinical Immunology, 2011

Role of TNFRSF13B variants in patients with common variable immunodeficiency.

Martínez-Pomar N et al.

Blood, 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

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

The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood.

Barroeta Seijas AB et al.

International Journal of Immunopathology and Pharmacology, 0

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