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U021 - Monogenic Autoinflammatory Syndromes

Friday, March 1; 4:30 PM - 5:30 PM

Learning Objectives

Following this course, the attendee should be able to:

  • Formulate a framework for understanding autoinflammatory skin disease and the rational for targeted intervention of specific pathways.
  • Recognize targeted therapies for autoinflammatory conditions based on pathways involved.
  • Describe clinical features of monogenic autoinflammatory syndromes of the IL-1 cytokine family, proteasome, and interferonopathies.


This session will provide an overview of new genetic syndromes described in the last several years with an emphasis on skin diseases with important systemic manifestations. Topics will include new autoinflammatory and immunodeficiency diseases, among others. Recent advances in the monogenic basis of these conditions, as well as the underlying pathophysiologic pathways responsible for the skin phenotypes will be discussed. These mechanisms provide new insight into our understanding of cutaneous infection, autoinflammation, and granuloma formation in both rare and common diseases.


  • Ombrello, Amanda, MD: no financial relationships exist with commercial interests.
  • Pichard, Dominique C., MD: no financial relationships exist with commercial interests.
Friday, March 1
4:30 PM
All faculty / Monogenic autoinflammatory syndromes
Event Details
  • Date
    Friday, March 1
  • Time
    4:30 PM - 5:30 PM
  • Location
    Room 154A
  • CME Credits
  • Type
  • Dominique C. Pichard, MD, FAAD - Handout
  • Amanda Ombrello, MD