Associated Papers
A genetic variant of BAFF is associated with the risk of lymphoma in Sjögren disease.
Beydon M et al.
Annals of the Rheumatic Diseases, 2026
The H159Y Variant of the BAFF-R Gene (TNFRSF13C) Is Unrelated to the Risk of Developing Systemic Lupus Erythematosus and Sjögren's Disease in a Mexican Population.
Borunda-Calderón IM et al.
International Journal of Molecular Sciences, 2026
Genetics in a Danish Common Variable Immunodeficiency Cohort.
Drabe CH et al.
Journal of Clinical Immunology, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
B-cell activating factor gene variants in multiple sclerosis: Possible associations with disease susceptibility among females.
Skarlis C et al.
Clinical Immunology (orlando, Fla.), 2023
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
Palmisani E et al.
Hemasphere, 2023
CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses.
Block V et al.
Journal of Clinical Immunology, 2023
B-cell activating factor (BAFF), BAFF promoter and BAFF receptor allelic variants in hepatitis C virus related Cryoglobulinemic Vasculitis and Non-Hodgkin's Lymphoma.
Gragnani L et al.
Hematological Oncology, 2022
The association of COVID-19 severity and susceptibility and genetic risk factors: A systematic review of the literature.
Ishak A et al.
Gene, 2022
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
D'Alterio G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia.
Bucciol G et al.
Journal of Clinical Immunology, 2022
Natural history of type 1 diabetes on an immunodysregulatory background with genetic alteration in B-cell activating factor receptor: A case report.
Di Lorenzo B 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
The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy.
Russo R et al.
Genes, 2021
The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).
Bisgin A et al.
Scientific Reports, 2021
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
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
TNFRSF13C/BAFFR P21R and H159Y polymorphisms in multiple sclerosis.
Ntellas P et al.
Multiple Sclerosis and Related Disorders, 2020
Primary Antibody Deficiencies.
Min Q et al.
Advances in Experimental Medicine and Biology, 2020
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
Miano M et al.
British Journal of Haematology, 2019
Host genetic variants in sepsis risk: a field synopsis and meta-analysis.
Lu H et al.
Critical Care (london, England), 2019
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.
Mitz AR et al.
European Journal of Human Genetics : Ejhg, 2018
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in Immunology, 2018
MTHFR gene variants and non-MALT lymphoma development in primary Sjogren's syndrome.
Fragkioudaki S et al.
Scientific Reports, 2017
Germline mutations predisposing to diffuse large B-cell lymphoma.
Leeksma OC et al.
Blood Cancer Journal, 2017
Association of variants in BAFF (rs9514828 and rs1041569) and BAFF-R (rs61756766) genes with the risk of chronic lymphocytic leukemia.
Jasek M et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016
Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
Bogaert DJ et al.
Journal of Medical Genetics, 2016
Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies.
Lougaris V et al.
Journal of Clinical Immunology, 2016
A BAFF receptor His159Tyr mutation in Sjögren's syndrome-related lymphoproliferation.
Papageorgiou A et al.
Arthritis & Rheumatology (hoboken, N.j.), 2015
Polymorphisms in genes of the BAFF/APRIL system may constitute risk factors of B-CLL--a preliminary study on a Polish population.
Jasek M et al.
Tissue Antigens, 2015
Contribution of Genetic Factors to Sjögren's Syndrome and Sjögren's Syndrome Related Lymphomagenesis.
Nezos A et al.
Journal of Immunology Research, 2015
BAFF-R mutations in Good's syndrome.
Lougaris V et al.
Clinical Immunology (orlando, Fla.), 2014
B-cell activating factor genetic variants in lymphomagenesis associated with primary Sjogren's syndrome.
Nezos A et al.
Journal of Autoimmunity, 2014
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
A BAFF-R mutation associated with non-Hodgkin lymphoma alters TRAF recruitment and reveals new insights into BAFF-R signaling.
Hildebrand JM et al.
The Journal of Experimental Medicine, 2010
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Wang HY et al.
Human Mutation, 2010
Isolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency.
Kashef S et al.
Journal of Investigational Allergology & Clinical Immunology, 2009
Antibody deficiency diseases.
Pan-Hammarström Q et al.
European Journal of Immunology, 2008
Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency.
Losi CG et al.
Journal of Clinical Immunology, 2005
[On the immunology of the antibody deficiency syndrome].
SCHEIFFARTH F et al.
Die Medizinische Welt, 1960