Publications by authors named "Camille Brunaud"
Article Synopsis
- * A female patient with genetic variants in the IKKα kinase domain exhibited severe immune issues, including low antibody levels and recurrent lung infections, linked to the impaired NF-κB pathways.
- * The study highlights that mutations in IKKα disrupt its function, paving the way for better understanding of NF-κB pathway defects and IKKα's influence on gene expression in humans.
Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. This is highlighted by the DOCK2 and DOCK8 deficiencies leading to actinopathies and immune deficiencies. DOCK8 and DOCK11 activate CDC42, a Rho-guanosine triphosphate hydrolases involved in actin cytoskeleton dynamics, among many cellular functions.
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- Allogenic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are potential cures for severe combined immunodeficiency (SCID), but patients often face late-onset issues like persistent hepatitis.
- A study of SCID patients revealed that 11 out of 44 experienced persistent hepatitis linked to chronic enteric viral infections, particularly enteric viruses not found in non-hepatitis SCID patients.
- Treatments like retransplantation or gene therapy showed promise, as 5 patients achieved remission of hepatitis and viral clearance, highlighting the importance of addressing immune dysregulation in these patients.
Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children is generally milder than in adults, but a proportion of cases result in hyperinflammatory conditions often including myocarditis.
Methods: To better understand these cases, we applied a multiparametric approach to the study of blood cells of 56 children hospitalized with suspicion of SARS-CoV-2 infection. Plasma cytokine and chemokine levels and blood cellular composition were measured, alongside gene expression at the bulk and single-cell levels.
Aims: We have shown that extracellular vesicles (EVs) secreted by embryonic stem cell-derived cardiovascular progenitor cells (Pg) recapitulate the therapeutic effects of their parent cells in a mouse model of chronic heart failure (CHF). Our objectives are to investigate whether EV released by more readily available cell sources are therapeutic, whether their effectiveness is influenced by the differentiation state of the secreting cell, and through which mechanisms they act.
Methods And Results: The total EV secreted by human induced pluripotent stem cell-derived cardiovascular progenitors (iPSC-Pg) and human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) were isolated by ultracentrifugation and characterized by Nanoparticle Tracking Analysis, western blot, and cryo-electron microscopy.
Introduction: Polymorphisms in the type III interferon IFN-λ3 and the killer cell immunoglobulin-like receptor (KIR) genes controlling the activity of natural killer (NK) cells can predict spontaneous resolution of acute hepatitis C virus (HCV) infection. We hypothesized that IFN-λ3 polymorphism may modulate NK cell function during acute HCV.
Methods: We monitored the plasma levels of type III IFNs in relation to the phenotype and the function of NK cells in a cohort of people who inject drugs (PWID) during acute HCV infection with different outcomes.