Hematology/Oncology
Genomics
General Pediatrics
Cross-Disciplinary Pathway
Allergy, Immunology and Rheumatology
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.
Presenter: Eric J. Allenspach, MD, PhD – University of Washington/Seattle Children's Hospital
Presenter: Scott Canna, MD – Children's Hospital of Pittsburgh
Presenter: Megan A. Cooper, MD, PhD – Washington University
Presenter: Edward Behrens, MD – The Children's Hospital of Philadelphia
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