Beáta Dérfalvi
A5041776876- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Autoimmune and Inflammatory Disorders Research
- Immune Cell Function and Interaction
- Platelet Disorders and Treatments
- T-cell and B-cell Immunology
- Inflammasome and immune disorders
- Diabetes and associated disorders
- Blood groups and transfusion
- Extracellular vesicles in disease
- Growth Hormone and Insulin-like Growth Factors
- Chronic Lymphocytic Leukemia Research
- Cytokine Signaling Pathways and Interactions
- Systemic Lupus Erythematosus Research
- Peptidase Inhibition and Analysis
- Genomics and Rare Diseases
- Parvovirus B19 Infection Studies
- interferon and immune responses
- Peroxisome Proliferator-Activated Receptors
- Phagocytosis and Immune Regulation
- Clinical Nutrition and Gastroenterology
- MicroRNA in disease regulation
- Childhood Cancer Survivors' Quality of Life
- Cell Adhesion Molecules Research
- Rheumatoid Arthritis Research and Therapies
Dalhousie University
2014-2025
Izaak Walton Killam Health Centre
2014-2025
Canada Foundation for Innovation
2022
University of Basel
2022
Institute of Molecular and Clinical Ophthalmology Basel
2022
Semmelweis University
2008-2019
Abstract The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference supporting genomic analyses through semantic similarity machine learning algorithms. HPO has widespread applications in clinical diagnostics translational research, including diagnostics, gene-disease discovery, cohort analytics. In recent years, groups around world have developed translations from English...
Introduction Microvesicles (MVs), earlier referred to as microparticles, represent a major type of extracellular vesicles currently considered novel biomarkers in various clinical settings such autoimmune disorders. However, the analysis MVs body fluids has not been fully standardized yet, and there are numerous pitfalls that hinder correct assessment these structures. Methods In this study, we analyzed synovial fluid (SF) samples patients with osteoarthritis (OA), rheumatoid arthritis (RA)...
Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease with highest prevalence among women of childbearing age. However, children younger than 16 years also can develop SLE (childhood-onset lupus/juvenile-type SLE). The aim our study was to compare the clinical course adult and pediatric-onset SLE. Data from 342 patients followed at University Debrecen, Hungary, 79 documented in Hungarian National Pediatric registry were analyzed using hospital medical records. Organ...
Summary A highly concentrated (20%) immunoglobulin (Ig)G preparation for subcutaneous administration (IGSC 20%), would offer a new option antibody replacement therapy in patients with primary immunodeficiency diseases (PIDD). The efficacy, safety, tolerability and pharmacokinetics of IGSC 20% were evaluated prospective trial Europe 49 PIDD aged 2–67 years. Over median 358 days, received 2349 infusions at monthly doses equivalent to those administered previous intravenous or IgG treatment....
Abstract Background The initial symptoms of childhood leukaemia and lymphoma are often similar to those juvenile idiopathic arthritis (JIA). In our study, we analyzed the frequency characteristics musculoskeletal complaints as presenting newly diagnosed patients in past 10 years clinic. Methods Using Hungarian Tumour Register, performed a retrospective analysis medical records 166 new 95 pediatric treated from 1999 2009 at 2nd. Dept. Paediatrics Semmelweis University Budapest. Results Twenty...
Prolidase deficiency (PD) is an autosomal recessive inborn multisystemic disease caused by mutations in the PEPD gene encoding enzyme prolidase D, leading to defects turnover of proline-containing proteins, such as collagen. PD categorized a metabolic disease, but also error immunity. presents with range findings including dysmorphic features, intellectual disabilities, recurrent infections, intractable skin ulceration, autoimmunity, and splenomegaly. Despite symptoms immune dysregulation,...
Idiopathic inflammatory myopathies (IIMs) are systemic autoimmune diseases characterized by chronic muscle inflammation resulting in progressive weakness and frequent involvement of internal organs, mainly the pulmonary, gastrointestinal cardiac systems which considerably contribute to morbidity mortality IIMs.
Abstract We describe the first cases of germline biallelic null mutations in ARPC5, part Arp2/3 actin nucleator complex, two unrelated patients presenting with recurrent and severe infections, early-onset autoimmunity, inflammation, dysmorphisms. This defect compromises multiple cell lineages functions, when protein expression is reestablished in-vitro, complex conformation functions are rescued. As pathophysiological evaluation, we also show that interleukin (IL)−6 signaling distinctively...
Purpose Many individuals with inborn errors of immunity (IEIs) have poor humoral immune (HI) vaccine responses. Only a few studies examined specific cell-mediated (CMI) responses to coronavirus disease 2019 (COVID-19) vaccines in this population. Therefore, the purpose study was examine HI and CMI up 6 months post-COVID-19 dose 3 adults IEIs. Methods A multi-center prospective observational conducted across Canada collect severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)-specific...
Abstract Background X-linked inhibitor of apoptosis (XIAP) deficiency is a rare inborn error immunity which occurs secondary to mutations in the XIAP/BIRC4 gene. Disease onset usually manifests within first few years life, and associated with spectrum clinical features, immune dysregulation. Males typically present refractory chronic colitis, hemophagocytic lymphohistiocytosis, severe and/or recurrent infections. Laboratory analysis may reveal hypogammaglobulinemia cytopenias. At present,...
While Research Electronic Data Capture (REDCap) has been widely adopted in rare disease research, its unconstrained data format often leads to implementations that lack native interoperability with global health standards, limiting secondary use. To address this, we developed and validated RareLink , an open-source framework implementing our previously-published ontology-based common model, enabling standardised exchange between REDCap, international registries, downstream analysis tools....