The focus of the research group is to understand the genetic and immunological basis of inborn errors of immunity and severe infectious diseases in humans, particularly viral infections. 

With a basis in clinical medicine and biomedicine, the scientific goal is to bridge between clinical observations and unresolved questions in medicine to fundamental immunological discoveries in order to build the knowledge base for improved patient diagnosis and care. This is achieved by taking a patient-based approach to study immunology, immunity and the pathogenesis of infectious diseases.

Using a translational approach that combines whole-exome sequencing of patient samples with functional studies in molecular immunology, virology, transcriptomics, CRISPR/Cas9 gene editing, and tissue-relevant cell models, my group aims to delineate the pathogenesis of inborn errors of immunity and infectious diseases, including herpes simplex encephalitis, recurrent HSV-2 meningitis, VZV encephalitis, severe influenza and COVID-19.

Some of our seminal discoveries over the past ten years include:

• Identification of IRF3 deficiency in HSV encephalitis (Andersen et al J. Exp Med 2015)
• Discovery of defects in RNA polymerase III predisposing to VZV encephalitis (Ogunjimi et al J. Clin Invest 2017)
• Establishment of autophagy as antiviral in the CNS in humans and description of defects in autophagy genes ATG4A and LC3B2 underlying recurrent HSV-2 meningitis (Hait et al Science Immunol 2020)
• Co-discoverer of genetic defects and interferon autoAbs in critical COVID-19 (Zhang et al Science 2020; Bastard et al. Science 2020)
• Discovery of IFNAR2 deficiency in people with inuit ancestry succumbing to infection after vaccination with live attenuated MMR vaccine (Duncan et al 2022 J.Exp.Med)
• Collaborator on description of the neuron specific restriction factor TMEFF1 against HSV, and identification of patients with HSV encephalitis caused by TMEFF1 deficiency (Chan et al. Nature 2024, Dai et al Nature 2024)
• Unravelling of monoallelic expression in IRF7 deficiency (Werner et al 2025 J.Exp.Med)
• Identification of defects in the autophagy-related gene FIP200 in patients with critical COVID-19 (Hu et al 2025 Nature Comm)

The ultimate goal is to uncover novel immunological mechanisms and pathophysiology processes relevant to major viral infectious, inflammatory and autoimmune diseases, in order to improve diagnosis, prevention, and treatment of viral infections and immune-related pathologies in patients.