Associated Papers
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
Forghani I et al.
Genes, 2025
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms.
Li J et al.
International Journal of Laboratory Hematology, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 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
Neurological involvement in patients with primary immunodeficiency.
Kose H et al.
Allergologia Et Immunopathologia, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
The Evolutionary Scenario of Pediatric Unclassified Primary Antibody Deficiency to Adulthood.
Sgrulletti M et al.
Journal of Clinical Medicine, 2023
Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.
Reis BCSD et al.
Frontiers in Cellular and Infection Microbiology, 2023
Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort.
Sanchez DA et al.
Frontiers in Immunology, 2023
Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.
Guevara-Hoyer K et al.
Frontiers in Immunology, 2022
Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.
Naumova E et al.
Frontiers in Immunology, 2022
A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.
Tuteja S et al.
Journal of Pathology Informatics, 2022
Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency.
Zanatta L et al.
Frontiers in Pediatrics, 2022
[TNFRSF13B gene mutation in adult patient with common variable immunodeficiency. Case report].
Sviridov PS et al.
Terapevticheskii Arkhiv, 2021
Innate Mechanisms in Selective IgA Deficiency.
Zhang J et al.
Frontiers in Immunology, 2021
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in Immunology, 2018
TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.
Romberg N et al.
The Journal of Allergy and Clinical Immunology, 2015
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
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015
CVID-associated TACI mutations affect autoreactive B cell selection and activation.
Romberg N et al.
The Journal of Clinical Investigation, 2013
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
TNFRSF13B/TACI alterations in Greek patients with antibody deficiencies.
Speletas M et al.
Journal of 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
TACI mutation in common variable immunodeficiency and IgA deficiency.
Rachid R et al.
Current Allergy and Asthma Reports, 2006
TACI is mutant in common variable immunodeficiency and IgA deficiency.
Castigli E 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