A5008214638- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Viral-associated cancers and disorders
- Autoimmune and Inflammatory Disorders Research
- Blood disorders and treatments
- NF-κB Signaling Pathways
- Neonatal Respiratory Health Research
- Blood groups and transfusion
- Parvovirus B19 Infection Studies
- Platelet Disorders and Treatments
- Cytomegalovirus and herpesvirus research
- Chronic Lymphocytic Leukemia Research
- Pneumocystis jirovecii pneumonia detection and treatment
- COVID-19 and Mental Health
- Mycobacterium research and diagnosis
Research Institute Hospital 12 de Octubre
2019-2024
Human inborn errors of immunity (IEI) comprise a group diseases resulting from molecular variants that compromise innate and adaptive immunity. Clinical features IEI patients are dominated by susceptibility to spectrum infectious diseases, as well autoimmune, autoinflammatory, allergic, malignant phenotypes usually appear in childhood, which is when the diagnosis typically made. However, some identified adulthood due symptomatic delay disease or other reasons prevent request for study. The...
Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder clinically defined by chronic and benign lymphoproliferation, autoimmunity an increased risk of lymphoma due to genetic defect in the FAS-FASL apoptotic pathway. Genetic defects associated with ALPS are germinal somatic mutations FAS gene, addition FASLG, FADD, CASP8 CASP10 genes. The accumulation CD3+TCRαβ+CD4-CD8- double negative T-cells (DNT) hallmark disease 20-25% patients show heterozygous restricted...
Background: NF-kB1 is a master regulator of both acquired and innate responses. NFKB1 loss-of-function mutations elicit wide clinical phenotype with asymptomatic individuals at one end the spectrum patients common variable immunodeficiency, combined immunodeficiency or autoinflammation other. Impairment immunity disseminated Mycobacterium genavense infection expands immunological NF-κB1 deficiency. Objective: Functional molecular characterization patient novel Methods: Circulating T, B,...
Cernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we describe two unrelated cases same nonsense mutation in NHEJ1 gene showing significant differences clinical presentation immunological profile but similar defect.
NK degranulation plays an important role in the cytotoxic activity of innate immunity clearance intracellular infections and is factor outcome disease. This work has studied immunological profiles functionalities COVID-19 patients its association with severity A prospective observational study 99 was conducted. Patients were grouped according to hospital requirements severity. Innate immune cell subpopulations analyzed. The profile functionality cells differ between healthy controls severe...