Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.C193*
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TNFRSF13B

NM_012452.3:p.C193*

Associated Papers

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

Abolhassani H et al.

Journal of Human Immunity, 2025

Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.

Aygun A et al.

Immunologic Research, 2024

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

Miano M et al.

American Journal of Hematology, 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

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

Late-onset and long-lasting autoimmune neutropenia: an analysis from the Italian Neutropenia Registry.

Fioredda F et al.

Blood Advances, 2020

33206964 (PubMed )
Supplement: advancesadv2020002793-suppl1.pdf

Granule Cell Neuronopathy in a Patient with Common Variable Immunodeficiency.

McLean-Tooke A et al.

Journal of Clinical Immunology, 2019

Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children.

Moschese V et al.

European Journal of Pediatrics, 2019

Rare TACI Mutation in a 3-Year-Old Boy With CVID Phenotype.

Leonardi L et al.

Frontiers in Pediatrics, 2019

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

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

Pulvirenti F et al.

Journal of Immunology Research, 2016

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

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1

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

Speletas M et al.

Clinical & Developmental 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

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

Janzi M et al.

Genes and Immunity, 2012

Importance of B cell co-stimulation in CD4(+) T cell differentiation: X-linked agammaglobulinaemia, a human model.

Martini H et al.

Clinical and Experimental Immunology, 2011

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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