A5014399347- Immunodeficiency and Autoimmune Disorders
- Chronic Lymphocytic Leukemia Research
- interferon and immune responses
- SARS-CoV-2 and COVID-19 Research
- Immune Cell Function and Interaction
- Blood disorders and treatments
- Cell Adhesion Molecules Research
- Diabetes and associated disorders
- Immune Response and Inflammation
- Parvovirus B19 Infection Studies
- Respiratory viral infections research
- Viral Infections and Outbreaks Research
- NF-κB Signaling Pathways
- T-cell and B-cell Immunology
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- COVID-19 Clinical Research Studies
- Gastrointestinal disorders and treatments
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cystic Fibrosis Research Advances
- Autoimmune Bullous Skin Diseases
- RNA regulation and disease
- Vitamin K Research Studies
- Viral-associated cancers and disorders
Vall d'Hebron Institut de Recerca
2018-2025
Vall d'Hebron Hospital Universitari
2019-2025
Universitat Autònoma de Barcelona
2019-2020
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...
Hereditary angioedema (HAE) is a rare genetic disease, characterized by transient and self-limiting episodes of subcutaneous or submucosal swelling that spontaneously resolve within two to five days. The most common form HAE, HAE-C1-INH, caused deleterious mutations in the SERPING1 gene, encoding C1-Inhibitor protein, its diagnosis confirmed decreased C1-INH function. Distinctively from other forms up 15-20% HAE-C1-INH cases are sporadic de novo mutations. Here, we report patient with...
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,...
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...
Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis. The clinical characteristics include lymphoproliferation, autoimmunity (mainly cytopenia), and an increased risk of lymphoma. A distinctive biological feature accumulation (>2.5%) abnormal cell subset composed TCRαβ + CD4 - CD8 T cells (DNTs). most common genetic causes ALPS are monoallelic pathogenic variants in the FAS gene followed somatic variants,...