Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.R202H
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TNFRSF13B

NM_012452.3:p.R202H

Associated Papers

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

Abolhassani H et al.

Journal of Human Immunity, 2025

Charge-based immunoreceptor signalling in health and disease.

Shi X et al.

Nature Reviews. Immunology, 2025

Stratified analyses refine association between TLR7 rare variants and severe COVID-19.

Boos J et al.

Hgg Advances, 2024

38944683 (PubMed )
Supplement: mmc4.xlsx › single_variants_p_lt_0.05

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

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

Palmisani E et al.

Hemasphere, 2023

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.

Miano M et al.

Frontiers in Immunology, 2022

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

Grossi A et al.

Genes, 2021

Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.

Waller RG et al.

Human Molecular Genetics, 2021

33751038 (PubMed )
Supplement: hmg-2020-am-00763_waller_stables_ddab066.xlsx › STable_II

Clinical and molecular characterization of COVID-19 hospitalized patients.

Benetti E et al.

Plos One, 2020

33206719 (PubMed )
Supplement: pone.0242534.s004.xlsx › Foglio1

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

Moschese V et al.

European Journal of 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

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Tarailo-Graovac M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2B

Monogenic mutations associated with IgA deficiency.

Abolhassani H et al.

Expert Review of Clinical Immunology, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

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

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

Perspectives on common variable immune deficiency.

Park JH et al.

Annals of the New York Academy of Sciences, 2011

TNFRSF13B/TACI alterations in Greek patients with antibody deficiencies.

Speletas M et al.

Journal of Clinical Immunology, 2011

The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice.

Bacchelli C et al.

The Journal of Allergy and 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

Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency.

Dong X et al.

Human Immunology, 2010

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

Mohammadi J et al.

Journal of Clinical Immunology, 2009

Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8.

Waldrep ML et al.

Bmc Medical Genetics, 2009

Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency.

López-Mejías R et al.

Tissue Antigens, 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: etiological and treatment issues.

Deane S et al.

International Archives of Allergy and Immunology, 2009

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

Park MA et al.

Lancet (london, England), 2008

Progression of selective IgA deficiency to common variable immunodeficiency.

Aghamohammadi A et al.

International Archives of Allergy and Immunology, 2008

Genetic defects in common variable immunodeficiency.

Kopecký O et al.

International Journal of Immunogenetics, 2007

TACI, isotype switching, CVID and IgAD.

Castigli E et al.

Immunologic Research, 2007

TACI mutation in common variable immunodeficiency and IgA deficiency.

Rachid R et al.

Current Allergy and Asthma Reports, 2006

Molecular basis of common variable immunodeficiency.

Castigli E et al.

The Journal of Allergy and Clinical Immunology, 2006

TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity? New genetic defects in common variable immunodeficiency.

Salzer U et al.

Current Opinion in Allergy and Clinical Immunology, 2005

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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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."