Authors
Sudhir Gupta, Raphaela Goldbach-Mansky, Ivona Aksentijevich
Published in
Journal of Human Immunity. Volume 2. Issue 6. Nov 02, 2026. Epub Sep 11, 2026.
Abstract
Dr. Daniel L. Kastner, former Scientific Director of the National Human Genome Research Institute (NHGRI), was a visionary physician-scientist whose discoveries transformed the understanding of innate immunity and established the modern field of autoinflammatory diseases. Early in his career, he led the International FMF Consortium in identifying mutations in the MEFV gene as the cause of familial Mediterranean fever, providing the first molecular basis for a hereditary periodic fever syndrome and fundamentally redefining the pathogenesis of inflammatory disease. He subsequently identified and characterized additional hereditary autoinflammatory disorders, developed the conceptual framework for autoinflammation, and demonstrated how the study of rare genetic diseases could reveal universal mechanisms governing human inflammation and immunity. As Chief of the Inflammatory Disease Section at the National Institute of Musculoskeletal and Skin Diseases and later at the NHGRI, he built an internationally recognized program that integrated clinical investigation, human genetics, and immunology to advance both scientific discovery and patient care. Dr. Kastner mentored generations of physician and scientists and inspired colleagues through his intellectual rigor, humility, wit, and generosity. He will be remembered as the founder of the field of autoinflammatory diseases, an extraordinary translational investigator, a dedicated mentor, and a compassionate physician whose discoveries transformed the lives of patients worldwide.
PMID:
42725902
Bibliographic data and abstract were imported from PubMed on 14 Sep 2026.
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