Translational studies in patients with Autoinflammatory Diseases...from bedside to bench and back

Director's Seminar Series Dr. Goldbach-Mansky will present the work of her Laboratory of Clinical Immunology and Microbiology. Autoinflammatory diseases are a group of rare immune dysregulatory syndromes that present with unexplained fevers, rashes, joint pain, and inflammation in multiple organs, such as the central nervous system, the eyes, inner ears, bones, fat, blood vessels, lungs, and muscles. Many of the disease symptoms present very early in life, and patients do not have infections or malignacies. The discovery of single gene mutations, which modify the regulation of inflammatory pathways that are triggered by exogenous and endogenous " danger " molecules, has provided new concepts to understand this disease group. It also continues to provide us with new targets for intervention. Dr. Goldbach-Mansky's translational autoinflammatory research program focuses on clinical and translational studies in children with early-onset autoinflammatory diseases. Her research team conducts studies in patients with IL-1-mediated autoinflammatory diseases — including neonatal onset multisystem inflammatory disease (NOMID) and deficiency of the IL-1 receptor antagonist (DIRA) — and in patients with IFN-mediated autoinflammatory diseases — including chronic atypical neutophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE), STING- associated vasculopathy with onset in infancy (SAVI), and other autoinflammatory interferonopathies. The research team also evalua...
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