Abstracts tagged "genetics and takayasu arteritis"

Abstract Number: 150 • 2017 Pediatric Rheumatology Symposium
Childhood-onset Takayasu Arteritis Associated with Mutations in CBL
Arturo Borzutzky^1,2, Charlotte Niemeyer³, Guillermo Pérez-Mateluna⁴, Cecilia Mellado⁵, Miriam Erlacher³, Marena Niewisch⁶, Mariana Aracena⁵ and Cristián García⁷, ¹Department of Pediatric Infectious Diseases and Immunology, Pontificia Universidad Católica de Chile, Santiago, Chile, ²Millennium Institute on Immunology and Immunotherapy, Santiago, Chile, ³Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine,, University Medical Center Freiburg, Freiburg, Germany, ⁴Pediatric Infectious Diseases and Immunology, Pontificia Universidad Católica de Chile, Santiago, Chile, ⁵Section of Genetics, Department of Pediatrics, Pontificia Universidad Católica de Chile, Santiago, Chile, ⁶Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Freiburg, Germany, ⁷Department of Radiology, Pontificia Universidad Católica de Chile, Santiago, Chile
Background/Purpose: Takayasu arteritis (TA) is an inflammatory large-vessel vasculitis of unknown etiology that rarely presents in childhood. No monogenic etiologies of TA have been identified.…

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