A5051930099- Immunodeficiency and Autoimmune Disorders
- Complement system in diseases
- Chronic Lymphocytic Leukemia Research
- Genomic variations and chromosomal abnormalities
- Blood disorders and treatments
- Genomics and Rare Diseases
- Immune Cell Function and Interaction
- Vagus Nerve Stimulation Research
- Reproductive System and Pregnancy
- Blood groups and transfusion
- Bacterial Infections and Vaccines
- Respiratory and Cough-Related Research
- Cystic Fibrosis Research Advances
- NF-κB Signaling Pathways
- Pregnancy and preeclampsia studies
- Trypanosoma species research and implications
- Erythrocyte Function and Pathophysiology
- Long-Term Effects of COVID-19
- Malaria Research and Control
- interferon and immune responses
- Parvovirus B19 Infection Studies
- Research on Leishmaniasis Studies
- Respiratory Support and Mechanisms
- Neurogenetic and Muscular Disorders Research
- Cell Adhesion Molecules Research
Vall d'Hebron Hospital Universitari
2017-2024
Hospital Universitari Joan XXIII de Tarragona
2024
Intensive Care Foundation
2024
Vall d'Hebron Institut de Recerca
2016-2022
Universitat Autònoma de Barcelona
2016-2022
Hebron University
2021
Israel Ministry of Health
2020
Qassim University
2020
Research Institute for Tropical Medicine
2020
Bioscience Research
2020
For the accurate diagnosis of immunodeficiencies is crucial to compare patients' immunology laboratory values with age-sex matched controls, yet there a paucity normal for most populations.To define appropriate reference extended lymphocyte subpopulations and T-cell receptor excision circle (TRECs) levels in healthy pediatric donors between 1 month 18 years age.Extended immunophenotyping were obtained by analysis multiparameter flow cytometry panels following subpopulations: CD4+ CD8+ Naive,...
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function the immune system. The increasing use next-generation sequencing (NGS) technology has greatly facilitated identification genetic defects in PID patients daily clinical practice. Several NGS approaches are available, from unbiased whole exome (WES) specific gene panels. Here, we report on 3-year experience with (CES) for...
Streptococcal toxic shock syndrome (STTS) is a critical medical emergency marked by high morbidity and mortality, necessitating swift awareness, targeted treatment, early source control due to its rapid symptom manifestation. This report focuses on cohort of 13 patients admitted Vall d’Hebron University Hospital Intensive Care Unit, Barcelona, from November 2022 March 2023, exhibiting invasive Streptococcus pyogenes infections meeting institutional sepsis code activation criteria. The...
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations the gene (OMIM #614700). It initially characterized producing early-onset hypogammaglobulinemia, autoimmune manifestations, susceptibility to inflammatory bowel disease, and recurrent infection. However, further reports expanded this phenotype (including patients without hypogammaglobulinemia) a clinically variable syndrome with wide spectrum of clinical manifestations. We present...
Brain death triggers a systemic inflammatory response. Whether inflammation is different in lung donors after brain- (DBD) or circulatory-death (DCD) unknown, but this may potentially increase the incidence of primary graft dysfunction (PGD) transplantation. We compared plasma levels interleukin (IL)-6, IL-8, IL-10 and TNF-α BDB DCD their respective recipients, as well relationship with PGD mortality LT. A prospective, observational, multicenter, comparative, cohort-nested study that...
Abstract Background The sequestration of Plasmodium falciparum infected cells in the placenta results placental malaria (PM). It activates mother's immune and induces secretion inflammatory cytokines, which might influence pregnancy outcomes. This study aims to investigate cytokines (levels IL-4, IL-6, IL-10, IL-17A, INF γ) maternal peripheral, placental, umbilical cord blood response PM extent this may haemoglobin levels birth weight. Methods A total 185 consenting Sudanese women from Blue...
The clinical outcomes of primary immunodeficiencies (PIDs) are greatly improved by accurate diagnosis early in life. However, it is not common to consider PIDs before the manifestation severe symptoms. Including nation-wide newborn screening programs will potentially improve survival and provide better disease management preventive care PID patients. This calls for detection biomarkers blood use dried spot samples, which a part routine worldwide. Here, we developed method based on multiplex...
SASH3 is a lymphoid-specific adaptor protein. In recent study, deficiency was described as novel X-linked combined immunodeficiency with immune dysregulation, associated impaired TCR signaling and thymocyte survival in humans. The small number of patients reported to date showed recurrent sinopulmonary, cutaneous mucosal infections, autoimmune cytopenia. Here we describe an adult patient previously diagnosed common variable (CVID) due low IgG IgM levels upper tract infections. Two separate,...
Nowadays, proinflammatory factors are considered to play an important role in the pathophysiology of threatened preterm labor or chorioamnionitis. The aim this study was establish normal reference range for interleukin-6 (IL-6) levels amniotic fluid and identify which may alter value.Prospective a tertiary-level center including asymptomatic pregnant women undergoing amniocentesis genetic studies from October 2016 September 2019. IL-6 measurements were performed using fluorescence...
Introduction: A dysregulated inflammatory response, known as "cytokine storm", plays an important role in the pathophysiology of coronavirus 2019 disease (COVID-19). Identifying patients with a response and at high risk for severe respiratory failure, organ dysfunction, death is clinically relevant, they could benefit from specific therapies, such cytokine removal by hemoadsorption. This study aimed to evaluate hemoadsorption rescue therapy critically ill SARS-CoV-2 pneumonia, failure...
We discuss a single case of Hemophagocytic lymphohistiocytosis (HLH) due to NK-type non-Hodgkin lymphoma and Epstein-Barr virus reactivation with multiorgan dysfunction distributive shock in which we performed cytokine hemoadsorption Cytosorb ®. A full microbiological panel was carried out, including screening for imported disease, standard serologies cultures bacterial fungal infection. liver biopsy bone marrow aspirate were performed, confirming the diagnosis. The patients fulfilled...
It is known that the immunoregulatory networks in human Chagas disease play a key role parasitemia control during acute phase. However, little regarding of chronic The aim study was to describe serum cytokine profile Trypanosoma cruzi chronically infected patients and evaluate its relationship with presence or absence peripheral blood. This prospective observational where adult were included. Patients previously treated for disease, pregnant women, immunosuppressed excluded. Demographic...
Complement C5 deficiency (C5D) is a rare primary immunodeficiency associated with recurrent infections, particularly meningitis, by Neisseria species. To date, studies to elucidate the molecular basis of hereditary C5D have included fewer than 40 families, and most mutations (13 17) been found in single families. However, recently described p.A252T mutation reported be approximately 7% meningococcal disease cases South Africa. This finding raises question whether may prevalent other parts...
X-linked agammaglobulinemia (XLA) is a clinically and genetically well-defined immunodeficiency the most common form of agammaglobulinemia. It characterized by susceptibility to recurrent bacterial infections, profound hypogammaglobulinemia, few or no circulating B cells. XLA caused mutations in BTK gene, which encodes Bruton's tyrosine kinase (BTK). Due its recessive inheritance pattern, virtually only affects males, mother carrier mutation 80% 85% males with this condition. In remaining...