Proceedings of the National Academy of Sciences of the United States of America

About the PNAS Member Editor
Name Casanova, Jean-Laurent
Location The Rockefeller University
Primary Field Immunology and Inflammation
Secondary Field Medical Genetics, Hematology and Oncology
 Election Citation
In paradigm-shifting discoveries reported over two decades, Casanova has discovered that life-threatening infectious diseases striking otherwise healthy children may be caused by single-gene inborn errors of immunity, including variations underlying mycobacterial diseases (IFN-gamma immunity), invasive pneumococcal disease (TIR), herpes simplex virus encephalitis (TLR3), and chronic mucocutaneous candidiasis (IL-17).
 Research Interests
Jean-Laurent Casanova/s laboratory studies the human genetic determinism of pediatric infectious diseases, particularly mycobacterial diseases, invasive pneumococcal disease, herpes simplex encephalitis, chronic mucocutaneous candidiasis, severe flu and Kaposi sarcoma. He is interested in identifying monogenic "holes" in the immune defense of otherwise healthy children who are susceptible to specific infectious diseases, work that has profound implications for and has resulted in a paradigm shift in clinical medicine and fundamental immunology. The lab aims to understand what it is that makes some children develop a severe clinical illness in the course of infection while others exposed to the same microbe remain unharmed. The laboratory revealed that single-gene inborn errors of immunity in children may confer severe and selective vulnerability to certain infectious illnesses, whereas corresponding infections in adults result more from complex inheritance. This work not only blurs the distinction between patient-based Mendelian genetics and population-based complex genetics but also provides experimental support for a unified genetic theory of human infectious diseases.

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