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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 Takei3,4, 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…
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