Abstracts tagged "Autoinflammatory Disease and pediatric rheumatology"

Abstract Number: 800 • 2019 ACR/ARP Annual Meeting
Cryopyrin-Associated Periodic Syndrome in Korea: 19 Years of Experience
Young Ho Kim¹, Bongjik Kim ², Byung Yoon Choi ², Haeng Jin Lee ³, Dae-Chul Jeong ⁴, Jinhee Han ², Hye-Rim Park ², Jayoung Oh ², Seungmin Lee ², Dooyi Oh ⁵ and Soyoung Lee ¹, ¹Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Seoul-t'ukpyolsi, Republic of Korea, ²Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seongnam, Kyonggi-do, Republic of Korea, ³Department of Ophthalmology, Seoul National University Hospital, Seoul, Republic of Korea, ⁴Department of Pediatrics, The Catholic University of Korea, Seoul, Seoul-t'ukpyolsi, Republic of Korea, ⁵Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul, Kyonggi-do, Republic of Korea
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) is rare auto-inflammatory disorder characterized by recurrent episodes fever with variable manifestation of systemic inflammation such as urticarial skin rash,…
Abstract Number: 2751 • 2013 ACR/ARHP Annual Meeting
Recurrent Pericarditis In Children and Adolescents: Etiology, Presentation, Therapies, and Outcomes In a Multicenter Retrospective Cohort Of 100 Patients
Antonio Brucato¹, Massimo Imazio², Marco Gattorno³, Antonella Insalaco⁴, Chiara Di Blasi Lo Cuccio¹, Simona Marcora⁵, Rolando Cimaz⁶, Luca Cantarini⁷, Luciana Breda⁸, Manuela Marsili⁹, Fabrizia Corona¹⁰ and Alberto Martini¹¹, ¹Internal Medicine, USC Internal Medicine, Ospedale Papa Giovanni XXIII, Bergamo, Italy, ²Cardiology, Maria Vittoria Hospital, Torino, Italy, ³Second Division of Paediatrics, G. Gaslini Institute, Genova, Italy, ⁴Department of Pediatric Rheumatology, Ospedale Pediatrico Bambino Gesù, Roma, Italy, ⁵Paediatric Cardiology, Ospedale Papa Giovanni XXIII, Bergamo, Italy, ⁶Rheumatology Unit, A. Meyer Children's Hospital, Florence, Italy, ⁷University of Siena, Siena, Italy, ⁸Department of Paediatrics, University of Chieti G. D'Annunzio, Chieti, Italy, ⁹Paediatrics Department, University of Chieti G. D'Annunzio, Chieti, Italy, ¹⁰Reumatologia Pediatrica, Paediatric Department University of Milano, Milano, Italy, ¹¹Pediatria, Istituto G Gaslini, Pediatria II, Reumatologia, Genova, Italy
Background/Purpose: Acute pericarditis is defined as at least 2 of the following criteria: typical chest pain (sharp and pleuritic, improved by sitting up and leaning…
Abstract Number: 2172 • 2013 ACR/ARHP Annual Meeting
Single MVK Mutation and Recurrent Fevers
Karyl Barron¹, Amanda K. Ombrello², Donald P. Goldsmith³, Ivona Aksentijevich², Anne Jones² and Daniel L. Kastner², ¹Div Intramural Research, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, ²Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³Pediatric Rheumaology, St Christopher's Hospital for Children/ Drexel College of Medicine, Philadelphia, PA
Background/Purpose: HyperIgD syndrome is an autoinflammatory disorder caused by mutations in the MVK gene. While mutations in most patients follow autosomal recessive inheritance, we have…

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