Pathogenic pathways in allergy gleaned from monogenic disease

NIH Director's Seminar Series Monogenic diseases can be highly instructive in uncovering basic pathways whose perturbations lead to specific symptoms. Monogenic diseases associated with allergy present an opportunity to define pathways critical for preventing allergic disease. Previous studies of such diseases have understandably focused on the more severe associated phenotypes such as infection, autoimmunity or neoplasms. Our lab wishes to mechanistically understand how these mutations lead to the allergic phenotype, in order to learn globally important lessons in allergy pathogenesis. Additionally, we seek to define new genetic diseases of allergy by focusing on allergic symptoms as the inherited trait, and carefully examining more subtle phenotypes which may not have been brought to the attention of a medical professional, but provide invaluable tools in identifying novel disorders. This seminar will focus on several genetic diseases of allergy recently described by our lab along with a known one, and the pathophysiologic insight they have provided.Air date: 11/14/2014 12:00:00 PM
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