A5001062555- Inflammasome and immune disorders
- Immunodeficiency and Autoimmune Disorders
- Virus-based gene therapy research
- Viral Infectious Diseases and Gene Expression in Insects
- CAR-T cell therapy research
- interferon and immune responses
- Biomedical and Engineering Education
- Cancer Immunotherapy and Biomarkers
- Bladder and Urothelial Cancer Treatments
- IL-33, ST2, and ILC Pathways
- Cancer Genomics and Diagnostics
- Otitis Media and Relapsing Polychondritis
- Gastrointestinal disorders and treatments
- CRISPR and Genetic Engineering
- Biomedical Ethics and Regulation
- Antifungal resistance and susceptibility
- Liver Disease Diagnosis and Treatment
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- RNA Interference and Gene Delivery
- Vascular Anomalies and Treatments
- Multiple Myeloma Research and Treatments
- Urticaria and Related Conditions
- Immune cells in cancer
- Systemic Lupus Erythematosus Research
- Liver Diseases and Immunity
Hospital Clínic de Barcelona
2019-2025
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2021-2024
Universitat de Barcelona
2019-2024
Universidad de Navarra
2022
Banc de Sang i Teixits
2019
VEXAS syndrome is a haemato-inflammatory disease caused by somatic UBA1 mutations and characterized cytoplasmic vacuoles in myeloid erythroid precursor cells. Although there currently no standard treatment algorithm for VEXAS, patients are generally treated with anti-inflammatory therapies focused on symptom management, only partial effectiveness. Hypomethylating agents (HMA) have shown promise concomitant myelodysplastic (MDS), while the efficacy of HMA without MDS largely unknown....
Consuming baked milk (BM) may accelerate tolerance in cow's milk-allergic (CMA) children. In high-risk patients, controlled BM-based oral food challenge (BM-OFC) is recommended, as the benefits can outweigh risks of a prolonged exclusion diet. To identify predictive biomarkers for BM-OFC outcomes cohort at high risk anaphylaxis and compare OFC thresholds pasteurized cow´s protein (CMP). We performed prospective study children (≥12 months to <6 years) with history CMA. Testing diagnosis...
Pathogenic RIPK1 variants have been described as the cause of two different inborn errors immunity. Biallelic loss-of-function recessively inherited deficiency, while monoallelic impairing caspase-8-mediated cleavage provoke a novel autoinflammatory disease (AID) called cleavage-resistant RIPK1-induced (CRIA) syndrome. The aim this study was to characterize pathogenicity located at site caspase-8 detected in patients with dominantly-inherited, early-onset undefined AID. genotyping performed...
Abstract Background Chronic urticaria (CU) is defined as the occurrence of wheals/angioedema for ≥6 consecutive weeks. Until now, guidelines and publications addressing CU have focused mainly on adults. As a result, evidence guidance in pediatric population are scarce. Methods This study aims to describe clinical laboratory findings determine factors associated with remission. Results 185 patients, 54% female, median age at onset 8.8 years. Angioedema was present almost half. The most common...
Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have genetic origin, but without conclusive evidences about it. We identified two brothers born prematurely from non-consanguineous healthy couple, with neonatal-onset, chronic disease characterized by severe skin and bone inflammatory manifestations fatal outcome in infancy. conducted DNA mRNA analyses the patients’ relatives identify cause disease. were performed both Sanger...
Background: Selective IgE deficiency (SIgED) has been previously evaluated in selected patients from allergy units. This study investigates the effects of SIgED on entire population a hospital setting and sought to delineate detail clinical aspects SIgED. Methods: A retrospective data obtained electronic medical records 52 adult (56% female) with mean age 43 years levels <2.0 kU/L normal immunoglobulin (Ig) IgG, IgA, IgM levels, seen at our hospital, without selection bias, 2010 2019....
Autoantibody detection is the cornerstone of autoimmune liver diseases (AILD) diagnosis. Standardisation working algorithms among autoimmunity laboratories, as well being aware sensitivity and specificity various commercial techniques in daily practice, are still necessary. The aim this nationwide study to report results 2020 Autoimmunity Workshop organised by Group Spanish Society Immunology provide useful information clinicians laboratory specialists improve management autoantibody AILD...
High-capacity adenoviral vectors (HC-AdV) show extended DNA payload and stability of gene expression in vivo due to the absence viral coding sequences. However, production requires methods trans-complement proteins, usually through Helper Viruses (HV). The Cre/loxP system is frequently employed remove packaging signal HV genomes, order avoid their encapsidation. chronic exposure Cre recombinase cells detrimental. We have applied dimerizable overcome this limitation.Cre was split two...
Summary Chimeric antigen receptor (CAR) T‐cell therapies have increased the patients with relapsed/refractory multiple myeloma (RRMM) in whom standard electrophoretic techniques fail to detect M‐protein. Quantitative immunoprecipitation mass spectrometry (QIP‐MS) can accurately measure serum M‐protein high sensitivity, and identify interferences caused by therapeutic monoclonal antibodies. Here, we investigate outcome of QIP‐MS 33 treated academic BCMA‐directed CAR ARI0002h (Cesnicabtagene...
Objective NLRP3 mosaicism is a well-established mechanism causing cryopyrin-associated periodic syndromes (CAPS). The number of reported patients with small, and the knowledge about long-term disease behavior limited. Herein we have assembled largest cohort individuals to date obtain additional evidence that strengthens understanding this disease. Methods Patients data were collected from their medical charts. Genetic analyses performed using Sanger next-generation sequencing. In vitro...
Abstract Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have genetic origin, but with not conclusive evidences about it. We identified two brothers born prematurely from non-consanguineous healthy couple, neonatal-onset, chronic disease characterized by severe skin and bone inflammatory manifestations, fatal outcome in infancy. conducted DNA mRNA analyses patients’ relatives identify the basis characterize detected gene variants. were...