Hematology/Oncology

Genomics

General Pediatrics

Cross-Disciplinary Pathway

Allergy, Immunology and Rheumatology

Demystifying Immune Dysregulation

Chair(s)

• 

  Jay Mehta

  Associate Professor of Clinical Pediatrics
  University of Pennsylvania Perelman School of Medicine The Children's Hospital of Philadelphia
  The Children's Hospital of Philadelphia
  Philadelphia, Pennsylvania, United States
• 

  Laura Ballenger, MD, RhMSUS

  Pediatric Rheumatologist
  Rheumatology
  Nationwide Children's Hospital
  Columbus, Ohio, United States

In recent years, immune dysregulation syndromes have been increasingly recognized as a source of human disease requiring a multi-disciplinary approach to diagnosis and management. These children may present to a variety of pediatric sub-specialists for care, for example for early-onset diabetes, inflammatory bowel disease, rheumatic disease, and autoimmune cytopenias. This session will highlight a number of aspects of immune dysregulation of interest to the non-rheumatologist and to pediatric trainees in order to provide a shared mental model of what these conditions look like. The first presentation will introduce the concept of autoinflammation, discuss how to make some sense of a truly dizzying number of single-gene diseases, and show how instructive these rare diseases have been in understanding more common symptoms. The second presentation will use a stepwise, case-based approach to give a few examples of how immune dysregulation can hide in numerous pediatric clinics. The third presentation will describe how immune dysregulation syndromes may be inherited and explain how alternative mechanisms of disease, including somatic mosaicism, may lead to immune dysregulation. Finally, the fourth presentation will provide a practical, multi-disciplinary, and replicable approach to the diagnosis and management of these syndromes.

Presentations:

• 4:30 PM - 4:55 PM US CT

  Finding the immune dysregulation needle in your pediatric clinic haystack
  

  Presenter: Eric J. Allenspach, MD, PhD – University of Washington/Seattle Children's Hospital
• 4:55 PM - 5:15 PM US CT

  Autoinflammation: What is it and what does it tell us about human disease?
  

  Presenter: Scott Canna, MD – Children's Hospital of Pittsburgh
• 5:15 PM - 5:35 PM US CT

  Genomic discovery of primary immune dysregulation syndromes
  

  Presenter: Megan A. Cooper, MD, PhD – Washington University
• 5:35 PM - 6:00 PM US CT

  Assembling your team: the multi-disciplinary approach to diagnosis and treatment of immune dsyregulation syndromes
  

  Presenter: Edward Behrens, MD – The Children's Hospital of Philadelphia
• 6:00 PM - 6:30 PM US CT

  Break
  

  Presenter: Belinda Thomas
• 6:30 PM - 7:00 PM US CT

  Click for Live Q&A: Demystifying Immune Dysregulation
  

  Presenter: Belinda Thomas