Pediatric autoimmune diseases: Kawasaki disease, juvenile dermatomyositis and juvenile localized scleroderma
Paul Noble, MD
Cedars-Sinai Medical Center
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Tiphanie Vogel, MD, PhD
Baylor College of Medicine
R. Paul Guillerman, MD
Texas Children's Hospital
Anthony Shum, MD
UCSF
The autosomal dominant genetic disease COPA syndrome can present essentially indistinguishable from multiple known rheumatic diseases such as juvenile or rheumatoid arthritis with interstitial lung disease, systemic lupus erythematosus and ANCA-associated vasculitis. In this era of advances in genetic knowledge, the possibility that a patient with lung inflammation could have a genetic disorder cannot be ignored given the significant implications for family planning and potential for targeted therapy. Faculty will first discuss the clinical features of COPA syndrome, and, importantly place them within the context of common rheumatic presentations. Next, the varied radiological findings in the lungs and joints of multiple patients with COPA syndrome will be reviewed and compared to the findings in other rheumatic diseases. Finally, the pathophysiology behind COPA mutations will be examined, including what that may mean for treatment using targeted therapy in COPA syndrome.
