Abstracts tagged "Blau syndrome"

Abstract Number: 1269 • 2019 ACR/ARP Annual Meeting
Effective Treatment of TNFα Inhibitors in Chinese Patients with Blau Syndrome
Jing Chen ¹, Yi Luo ¹, Mengzhu Zhao ¹, Di Wu ¹, Yunjiao Yang ², Wen Zhang ³ and Min Shen¹, ¹Peking Union Medical College Hospital, Beijing, Beijing, China (People's Republic), ²Peking Union Medical College Hospital, Beijing, China (People's Republic), ³Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China (People's Republic)
Background/Purpose: Blau syndrome (BS) is a rare dominantly inherited autoinflammatory disorder associated with mutations in the NOD2 gene. BS is mainly seen in Caucasian patients.…
Abstract Number: 80 • 2017 Pediatric Rheumatology Symposium
Treatment of Blau Syndrome with Biologic Therapy: A Single Center Case Series of Seven Patients Over Two Decades
Jennifer Rammel¹, Patricia Rosillo¹, Tiphanie Vogel² and Marietta de Guzman³, ¹Department of Pediatrics, Division of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Houston, TX, ²Department of Pediatrics, Division of Immunology, Allergy and Rheumatology and the Center for Human Immunology at Texas Children's Hospital., Baylor College of Medicine, Houston, TX, ³Department of Pediatrics, Division of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX
Background/Purpose: Blau syndrome is a rare autoinflammatory granulomatous disease that presents with fever, arthritis, dermatitis and uveitis. It results from mutations in NOD2, an intracellular…
Abstract Number: 1134 • 2014 ACR/ARHP Annual Meeting
Role of NOD2 Pathway in Sarcoidosis Cases with Characteristics of Blau Syndrome
Gerard Dumancas¹, Indra Adrianto², Albert M. Levin³, Michael C. Iannuzzi⁴, Benjamin A. Rybicki³ and Courtney Montgomery⁵, ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²825 Ne 13th St. Ms 57, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Department of Public Health Sciences, Henry Ford Health System, Detroit, MI, ⁴Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, ⁵Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad symptoms of symmetric arthritis, dermatitis, and granulomatous recurrent uveitis,…
Abstract Number: 143 • 2014 ACR/ARHP Annual Meeting
Detailed Anatomical Distribution of Synovial Inflammation Revealed By Ultrasound in Patients with Blau Syndrome
Kei Ikeda¹, Naotomo Kambe², Syuji Takei^3,4, Taiji Nakano⁵, Yuzaburo Inoue⁵, Minako Tomiita⁶, Natsuko Oyake⁷, Takashi Satoh⁸, Tsuyoshi Yamatou³, Tomohiro Kubota³, Ikuo Okafuji⁹, Nobuo Kanazawa¹⁰, Ryuta Nishikomori¹¹, Naoki Shimojo⁵, Hiroyuki Matsue⁸ and Hiroshi Nakajima¹, ¹Department of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan, ²Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan, ³Department of Pediatrics, Kagoshima University Hospital, Kagoshima, Japan, ⁴School of Health Sciences, Faculty of Medicine, Kagoshima University, Kagoshima, Japan, ⁵Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan, ⁶Department of Allergy and Rheumatology, Chiba Children’s Hospital, Chiba, Japan, ⁷Department of Pediatrics, Hitachinaka General Hospital, Hitachinaka, Japan, ⁸Department of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan, ⁹Department of Pediatrics, Kobe City Medical Center General Hospital, Kobe, Japan, ¹⁰Department of Dermatology, Wakayama Medical University, Wakayama, Japan, ¹¹Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan
Background/Purpose Arthritis is the most frequent manifestation of Blau syndrome, an autoinflammatory disorder caused by the genetic mutation of NOD2. However, the detailed information on…
Abstract Number: 2742 • 2013 ACR/ARHP Annual Meeting
Blau Syndrome-Associated NOD2 Mutations Limit Production Of IL-6 and KC/IL-8 In Knock-In Mice and In Patients Suggesting a Loss Of Function Disease Mechanism
Jae Dugan¹, Eric Griffiths¹, Paige Snow¹, Holly L. Rosenzweig¹, Carlos D. Rose², Daniel Carr¹, James T. Rosenbaum³ and Michael Davey¹, ¹Dept. of Veterans Affairs Medical Center, Portland, OR, ²Pediatric Rheumatology, Thomas Jefferson University/ AI duPont Hospital for Children, Wilmington, DE, ³Arthritis and Rheumatic diseases, Oregon Health and Science University, Portland, OR
Background/Purpose: Blau syndrome is an autosomal dominant disorder caused by mutations in nucleotide-binding oligomerization domain 2 (Nod2) and characterized by arthritis, dermatitis and uveitis. Nod2…
Abstract Number: 1202 • 2013 ACR/ARHP Annual Meeting
Two Family Kindreds With Blau’s Syndrome Associated With Unusual NOD2 Mutations
Qingping Yao, Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH
Background/Purpose: The aim of this study was to report families of Blau’s syndrome with unusual NOD2 gene variants. Methods: Two proband patients were seen, and their clinical…
Abstract Number: 227 • 2013 ACR/ARHP Annual Meeting
Quantitative Image Analysis Of Articular Involvement In Blau Syndrome By Radiographic Calpal Length and Ultrasound Assessment
Tsuyoshi Yamatou¹, Tomohiro Kubota², Harumi Akaike¹, Yuichi Yamasaki², Yukiko Nonaka¹, Yasuhito Nerome¹, Tomoko Takezaki¹, Hiroyuki Imanaka¹, Kei Ikeda³, Naotomo Kambe⁴, Syuji Takei⁵ and Tomokazu Nagakura⁶, ¹Department of Pediatrics, Kagoshima University Hospital, Kagoshima, Japan, ²Dept of Pediatrics, Faculty of Medicine, Kagoshima University, Kagoshima, Japan, ³Department of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan, ⁴Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan, ⁵School of Health Sciences, Faculty of Medicine, Kagoshima University, Kagoshima, Japan, ⁶Department of Pediatrics, House of Meguminoseibo, Usuki, Japan
Background/Purpose: Blau syndrome (Blau) is a rare auto-inflammatory disease, and it has now been shown to be caused by NOD2/CARD15 gene mutations. Clinical features of…
Abstract Number: 191 • 2012 ACR/ARHP Annual Meeting
Analysis of Genes Involved in Autoinflammatory Diseases in Adult Onset Still’s Disease
Emma Garcia-Melchor¹, Dolors Grados², Eva Gonzalez-Roca¹, Elena Riera³, Manel Juan¹, Jordi Yagüe¹, Juan Ignacio Aróstegui¹, Javier Narváez⁴ and Alejandro Olivé⁵, ¹Immunology Department, Hospital Clinic Barcelona, Barcelona, Spain, ²Rheumatology Department, Hospital Universitario Germans Trias i Pujol, Badalona, Spain, ³Rheumatology Department, Hospital Mutua de Terrassa, Terrassa, Spain, ⁴Rheumatology Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain, ⁵Rheumatology, Hospital Universitario Germans Trias i Pujol, Badalona, Spain
Background/Purpose: Adult Onset Still’s Disease (AOSD) is a systemic inflammatory disease characterized by fever, skin rash, articular involvement, lymphadenopathy, hepatosplenomegaly and serositis. Due to the…