Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.S144*
Back to variants list

TNFRSF13B

NM_012452.3:p.S144*

Associated Papers

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

Abolhassani H et al.

Journal of Human Immunity, 2025

Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort.

Barbati F et al.

European Journal of 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

Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.

Naumova E et al.

Frontiers in Immunology, 2022

Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration.

Zama D et al.

Immunity, Inflammation and Disease, 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

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

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

Early-onset hypogammaglobulinemia: A survey of 44 patients.

Brignier AC et al.

The Journal of Allergy and Clinical Immunology, 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

A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation.

Clemente N et al.

Genes and Immunity, 2015

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

CVID-associated TACI mutations affect autoreactive B cell selection and activation.

Romberg N et al.

The Journal of Clinical Investigation, 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

A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family.

Lougaris V 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

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

He B et al.

Nature 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

Common variable immunodeficiency: a multifaceted and puzzling disorder.

Bergbreiter A et al.

Expert Review of Clinical Immunology, 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

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

Genetic defects in common variable immunodeficiency.

Kopecký O et al.

International Journal of Immunogenetics, 2007

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

Salzer U et al.

Journal of Clinical Immunology, 2007

Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency.

Pan-Hammarström Q et al.

Nature Genetics, 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

TACI mutation with invasive polyclonal CD8+ T-cell lymphoproliferation in a patient with common variable immunodeficiency.

Berglund LJ et al.

The Journal of Allergy and Clinical Immunology, 2006

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.

Schäffer AA et al.

Human Genetics, 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."