Spotlights
SEMINAR:Daniel Lindsley Kastner

Speaker: Dr.Daniel Lindsley Kastner

Topic:Horror Autoinflammaticus:A Patient-Centric Approach to Innate Immunity

Time: 14:00-15:30, Jul. 27th (Thur.)

Venue: Room 326, Medical Science Building

Host: Dr. Chen Dong

 

Abstract

  The systemic autoinflammatory diseases are a group of disorders first distinguished for their recurrent episodes of unexplained fever and inflammation, without the usual hallmarks of autoimmune disease. They are now recognized as distinct clinical and immunologic entities caused by perturbations of the innate immune system. Over the past two decades, the discovery of genes involved in human autoinflammatory diseases and breakthroughs in understanding innate immunologic pathways have proceeded hand-in-hand, with each potentiating the other, leading to new targeted therapies. In this lecture I will focus on three sets of autoinflammatory diseases. The first is a group of monogenic disorders exemplified by familial Mediterranean fever (FMF) that are caused by excessive inflammasome function. I will review some of the recent advances in our understanding of these conditions, and highlight some of the questions that remain unanswered. The second is a rapidly growing group of illnesses “solved” by next-generation sequencing that define new inflammatory pathways. I will speak in detail about one of these illnesses, the deficiency of adenosine deaminase 2 (DADA2), and will summarize others, such as vibratory urticaria, cleavage-resistant RIP kinase-associated fever (CRAF) syndrome, and STING-associated vasculopathy with onset in infancy (SAVI). The third is a group of genetically complex disorders typified by Behçet’s disease, in which common low-penetrance variants and rare high-penetrance mutations both contribute to disease risk. Each of these three stories begins with a question posed by patients and ultimately culminates in the evaluation of targeted therapies in those patients, thereby testing our understanding of the new molecular pathways uncovered.

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