Fernando Sepulveda

Fernando Sepulveda is a CNRS Researcher at the Imagine Institute, Necker Hospital, affiliated with Université Paris Cité, specializing in the immunopathology of cytotoxic lymphocyte disorders. His work focuses on Hemophagocytic Lymphohistiocytic Syndrome (HLH/MAS) and actin-related Primary Immune Disorders (PIDs), with significant contributions to understanding genetic and molecular mechanisms of immune dysregulation.

His academic journey includes:

• Biochemistry undergraduate studies at the University of Chile investigating T-cell homing
• PhD in Immunology (2005-2010) at the Curie Institute under Bénédicte Manoury studying endosomal proteases in TLR regulation
• Postdoctoral training (2010-2016) at Necker Hospital in Geneviève de Saint Basile's lab focusing on cytotoxic lymphocyte dysfunction in HLH/MAS

Dr. Sepulveda's research centers on characterizing pathophysiological mechanisms of severe immune disorders, particularly HLH/MAS. His work has established graded cytotoxicity defects as determinants of disease severity, identified novel genetic mutations (RAB27A, HAVCR2), and explored therapeutic interventions including JAK inhibitors. Current projects investigate actin-related PIDs and molecular pathways in immune dysregulation, bridging basic immunology with clinical applications for rare disorders.

Analysis of his 15 most recent publications reveals consistent focus on cytotoxic lymphocyte biology, with emphasis on genetic mutations affecting degranulation pathways (syntaxin 11, LYST, RAB27A), cytokine signaling in HLH pathogenesis, and translational approaches like gene therapy and targeted immunosuppression. His work demonstrates strong integration of mouse models with human genetic studies, advancing personalized treatment strategies for immune-mediated hyperinflammation.

He leads research within Geneviève de Saint Basile's laboratory at the Imagine Institute, a leading center for genetic immunology, focusing on multidisciplinary approaches to dissect immune regulatory mechanisms and develop novel diagnostics for primary immune disorders.