Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency.
Abolhassani H et al.
Journal of Human Immunity, 2025
Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.
Boujemaa M et al.
Journal of Translational Medicine, 2025
Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies.
Bakhuizen JJ et al.
European Journal of Cancer (oxford, England : 1990), 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genomic profiling at a single center cracks the code in inborn errors of immunity.
Andriano A et al.
Internal and Emergency Medicine, 2025
Case of Refractory Classic Hodgkin Lymphoma With a Germline Pathogenic Monoallelic Variant in the TNFRSF13B Gene.
Camacho-Arias M et al.
Pediatric Blood & Cancer, 2025
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F et al.
The Journal of Experimental Medicine, 2025
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms.
Li J et al.
International Journal of Laboratory Hematology, 2025
Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case.
Musabak U et al.
Case Reports in Immunology, 2025
Clinical, immunological, and genetic landscape of common variable immunodeficiency in Morocco: a nationwide multicenter study.
Allaoui A et al.
Frontiers in Immunology, 2025
A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.
Chetta M et al.
Computational and Structural Biotechnology Journal, 2024
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
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
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs).
Peng XP et al.
Clinical Immunology (orlando, Fla.), 2023
Genetics and clinical phenotypes in common variable immunodeficiency.
Cunningham-Rundles C et al.
Frontiers in Genetics, 2023
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.
Naumova E et al.
Frontiers in Immunology, 2022
MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.
Gelzo 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
TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece.
Kakkas I et al.
Medicina (kaunas, Lithuania), 2021
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
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children.
Moschese V et al.
European Journal of Pediatrics, 2019
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F et al.
Frontiers in Immunology, 2019
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.
Chi ZH et al.
Medicine, 2018
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in Immunology, 2018
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
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
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
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
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
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
Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency.
Bacchelli C et al.
Clinical and Experimental 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