Beata Derfalvi
Halifax, NS, Canada
Last Updated: 09/26/2026
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Found 38 publications
Three Doses and Six Months Later: Real-World SARS-CoV-2 Specific Humoral and Cell-Mediated Immunity in Children With Inborn Errors of Immunity.
Journal: Journal of clinical immunology
Published: July 29, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.
Journal: NPJ genomic medicine
Published: June 10, 2025
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.
Journal: The Journal of allergy and clinical immunology
Published: October 04, 2024
Humoral and cell-mediated immune responses to COVID-19 vaccines up to 6 months post three-dose primary series in adults with inborn errors of immunity and their breakthrough infections.
Journal: Frontiers in immunology
Published: September 25, 2024
Late presentation of X-linked inhibitor of apoptosis (XIAP) deficiency in a young adult.
Journal: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
Published: September 18, 2024
Inborn errors of immunity (primary immunodeficiencies).
Journal: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
Published: July 29, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Journal: Clinical immunology (Orlando, Fla.)
Published: June 11, 2024
The Human Phenotype Ontology in 2024: phenotypes around the world.
Journal: Nucleic acids research
Published: September 13, 2023
Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg.
Journal: Paediatrics & child health
Published: August 26, 2023
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
Journal: Nature communications
Published: December 12, 2022
Last Updated: 09/26/2026