Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 1898 • 2014 ACR/ARHP Annual Meeting
Identification of “autoinflammatory interferonopathies”? a New Class of Autoinflammatory Conditions?
Adriana Almeida de Jesus¹, Zuoming Deng², Stephen Brooks³, Yin Liu⁴, Hanna Kim⁴, Gina A. Montealegre Sanchez⁴, Dawn C. Chapelle⁴, Yan Huang⁴, Philip Hashkes⁵, Gulnara Nasrullayeva⁶, Maria Teresa Terreri⁷, Bita Arabshahi⁸, Marilynn G. Punaro⁹, Lakshmi N. Moorthy¹⁰, Adam Reinhardt¹¹, Clovis A. Silva¹², Emilia I. Sato¹³, Vibke Lilleby¹⁴, Thomas Fleisher¹⁵ and Raphaela Goldbach-Mansky⁴, ¹Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ²Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ³NIAMS/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁵Pediatric Rheumatology, Shaare Zedek Medical Center, Jerusalem, Israel, ⁶Head Immunology Department, Azerbaijan Medical University, Baku, Azerbaijan, ⁷University of Federal De Sao Paulo, Sao Paulo, Brazil, ⁸Pediatric Rheumatology, Inova Fairfax Hospital for Children, Fairfax, VA, ⁹Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, ¹⁰Pediatric Rheumatology, Robert Wood Johnson Medical School-Rutgers University, New Brunswick, NJ, ¹¹Pediatric Rheumatology, Children's Specialty Physicians, Omaha, NE, ¹²Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, ¹³Rheumatology Div/Dept of Med, Escola Paulista de Medicina - Universidade Federal de São Paulo, Sao Paulo, Brazil, ¹⁴Department of Rheumatology, Oslo University Hospital, Rikshospitalet, Oslo, Norway, ¹⁵Chief Department of Laboratory Medicine, National Institutes of Health, Bethesda, MD
Background/Purpose The role of IL-1 in the pathogenesis of many of the monogenic autoinflammatory diseases is clinically validated by the response to IL-1 blocking therapies.…
Abstract Number: 1817 • 2014 ACR/ARHP Annual Meeting
Connecting Two Pathways through Ca²⁺ Signaling: NLRP3 Inflammasome Activation Induced By a Hypermorphic PLCG2 Mutation
Jae Jin Chae¹, Yong Hwan Park¹, Chung Park², Il-Young Hwang², Patrycja Hoffmann³, John Kehrl², Ivona Aksentijevich³ and Daniel L. Kastner⁴, ¹Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, Bethesda, MD, ³Inflammatory Diseases Section, National Human Genome Research Institute, Bethesda, MD, ⁴Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose Previously, we reported that a novel variant, p.Ser707Tyr, in phospholipase Cγ2 (PLCγ2) is the cause of a dominantly inherited autoinflammatory disease, APLAID (autoinflammation and…
Abstract Number: 1226 • 2014 ACR/ARHP Annual Meeting
Studying Patients with Autoinflammatory Diseases: The Past, Present, and a Perspective for the Future
Jonathan S. Hausmann^1,2, Catherine Biggs³, Donald P. Goldsmith⁴ and Fatma Dedeoglu^1,5, ¹Rheumatology, Boston Children's Hospital, Boston, MA, ²Rheumatology, Beth Israel Deaconess Medical Center, Boston, MA, ³Program in Rheumatology, Divison of Immunoloty, Boston Children's Hospital, Boston, MA, ⁴Pediatric Rheumaology, St Christopher's Hospital for Children/ Drexel College of Medicine, Philadelphia, PA, ⁵on behalf of CARRAnet Investigators, Palo Alto, CA
Background/Purpose: Autoinflammatory diseases (AIDs) are uncommon disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Because of their rarity, finding large numbers of patients…
Abstract Number: 1703 • 2013 ACR/ARHP Annual Meeting
High Density Genotyping Of Immune-Related Disease Genes Identifies 7 New Susceptibility Loci For Behçet’s Disease
Masaki Takeuchi^1,2, Nobuhisa Mizuki², Akira Meguro², Michael J. Ombrello³, Colleen Satorius⁴, Yohei Kirino², Tatsukata Kawagoe², Duran Ustek⁵, Ilknur Tugal-tutkun⁶, Emire Seyahi⁷, Yilmaz Ozyazgan⁷, Shigeaki Ohno⁸, Atsuhisa Ueda², Yoshiaki Ishigatsubo², Ahmet Gül^6,9, Daniel L. Kastner⁴ and Elaine Remmers⁴, ¹Medical Genetics Branch, Inflammation Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²Yokohama City University Graduate School of Medicine, Yokohama, Japan, ³Translational Genetics and Genomics Unit, National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁴Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey, ⁶Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁷Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁸Hokkaido University Graduate School of Medicine, Hokkaido, Japan, ⁹Department of Internal Medicine, Rheumatology Division, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey
Background/Purpose: Genome-wide association studies have revealed susceptibility genes for many genetically complex diseases. The Immunochip is a custom array with 196,524 markers in 186 loci…
Abstract Number: 1355 • 2013 ACR/ARHP Annual Meeting
Subcutaneous Administration Of Methotrexate With a Prefilled Autoinjector Pen Results In a Higher Relative Bioavailability Compared To Oral Administration Of Methotrexate
Uwe Pichlmeier and Kay-Uwe Heuer, medac GmbH, Wedel, Germany
Background/Purpose: Methotrexate (MTX) is commonly used in the treatment of RA, psoriasis, and psoriatic arthritis. Subcutaneously administered MTX is well absorbed and appears to overcome…
Abstract Number: 1297 • 2013 ACR/ARHP Annual Meeting
Human IL-1alpha Conditional Transgenic Mice Mimic Autoinflammatory Syndromes In Human
Hiroya Kanagawa¹, Yasuo Niki², Yoshiaki Toyama³ and Takeshi Miyamoto⁴, ¹Department of Orthopaedic Surgery, Keio University, Shinjuku-ku, Tokyo, Japan, ²Orthopaedic Surgery, Department of Orthopaedic Surgery, Keio University, Tokyo, Japan, ³Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan, ⁴Department of Orthopaedic Surgery, Keio University, Shinjuku-ku,Tokyo, Japan
Background/Purpose: Recently, IL-1 is implicated in the pathogenesis of autoinflammatory syndrome, which characterized by rash, fever, systemic polyarthritis and neurological comorbidity. Recently, IL-1 becomes noticed…
Abstract Number: 1203 • 2013 ACR/ARHP Annual Meeting
An Escalating Dose Of Anakinra In Patients With Autoinflammatory Disease Is a Safe and Reasonable Therapeutic Option
Amanda K. Ombrello¹, Karyl Barron², Patrycja M. Hoffmann³, Anne Jones³, Deborah Stone⁴ and Daniel L. Kastner⁵, ¹National Human Genome Research Institute,National Institute of Health, Bethesda, MD, ²Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ³Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁴National Human Genome Research Institute, Bethesda, MD, ⁵Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose: The autoinflammatory diseases are diseases in which there is seemingly unprovoked stimulation of the innate immune system. The enhanced release of cytokines in…
Abstract Number: 1205 • 2013 ACR/ARHP Annual Meeting
Effectiveness Of Canakinumab In a Cryopyrin-Associated Periodic Syndrome Cohort.A Single Center Experience
Virginia Moreira-Navarrete¹, Francisco Javier Toyos Saenz de Miera², Carmen Vargas Lebrón³ and F. Navarro Sarabia⁴, ¹Rheumatology, University Hospital Virgen Macarena, Sevilla, Spain, ²Hospital Virgen de la Macarena, Sevilla, Spain, ³Hospital Virgen Macarena, SEVILLA, Spain, ⁴Rheumatologist Service, Hospital Universitario Virgen Macarena, Sevilla, Spain
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) comprises a group of rare, but severe, autoinflammatory diseases, characterized by urticaria, periodic fever, central nervous system inflammation, arthropathy, and…
Abstract Number: 1206 • 2013 ACR/ARHP Annual Meeting
Canakinumab Treatment Regimens In CAPS Patients
Ferdinand Hofer¹, Theresa Endres¹, Birgit Kortus-Goetze², Norbert Blank³, Elisabeth Weissbarth-Riedel⁴, Catharina Schuetz⁵, Tilmann Kallinich⁶, Karoline Krause⁷, Christoph Rietschel⁸, Gerd Horneff⁹ and Jasmin B. Kuemmerle-Deschner¹⁰, ¹Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tuebingen, Tuebingen, Germany, ²Klinik für Innere Medizin, Klinikum der Philipps-Universität Marburg, Marburg, Germany, ³University of Heidelberg, Heidelberg, Germany, ⁴Kinderrheumatologische Ambulanz, Universitätsklinikum Eppendorf, Hamburg, Germany, ⁵Klinik für Kinder und Jugendmedizin, Universitätsklinikum Ulm, Ulm, Germany, ⁶Charite, University Medicine Berlin, Berlin, Germany, ⁷Dept. of Dermatology and Allergy, Allergie-Centrum-Charité, Charité – Universitätsmedizin Berlin, Germany, Berlin, Germany, ⁸Kinder- und Jugendrheumatologie, Clementine-Kinderhospital, Frankfurt, Germany, ⁹Department of Pediatrics, Asklepios Klinik Sankt Augustin, Sankt Augustin, Germany, ¹⁰University Hospital Tuebingen, Tuebingen, Germany
Background/Purpose: Canakinumab is a recombinant monoclonal fully human antibody against Interleukin-1β and approved for the treatment of CAPS in many countries including Europe and the…
Abstract Number: 1213 • 2013 ACR/ARHP Annual Meeting
Low-Penetrance NLRP3-Variants
Theresa Endres¹, Ferdinand Hofer¹, Raphaela T. Goldbach-Mansky², Hal M. Hoffman³, Norbert Blank⁴, Karoline Krause⁵, Christoph Rietschel⁶, Gerd Horneff⁷, Peter Lohse⁸ and Jasmin B. Kuemmerle-Deschner⁹, ¹Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tuebingen, Tuebingen, Germany, ²Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ³Division of Allergy, Immunology and Rheumatology, University of California at San Diego, La Jolla, CA, ⁴University of Heidelberg, Heidelberg, Germany, ⁵Dept. of Dermatology and Allergy, Allergie-Centrum-Charité, Charité – Universitätsmedizin Berlin, Germany, Berlin, Germany, ⁶Kinder- und Jugendrheumatologie, Clementine-Kinderhospital, Frankfurt, Germany, ⁷Department of Pediatrics, Asklepios Klinik Sankt Augustin, Sankt Augustin, Germany, ⁸Institut für Laboratoriumsmedizin und Humangenetik, Singen, Germany, ⁹University Hospital Tuebingen, Tuebingen, Germany
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) presents as rare, autosomal dominant disease spectrum, due to mutations in the NLRP3-gene which lead to excessive interleukin-1 (IL-1) release.…
Abstract Number: 1167 • 2013 ACR/ARHP Annual Meeting
A Possible Mechanism Of NLRP3 Inflammasome Hypersensitivity In Cryopyrin-Associated Periodic Syndrome
Sayaka Ito, Chie Tagami, Yukichi Hara and Tetsuo Kubota, Tokyo Medical and Dental University, Tokyo, Japan
Background/Purpose: NLRP3 in monocytes and other cell types plays a role in innate immunity as one of the intracellular pathogen recognition receptors, and its mutation…
Abstract Number: 2864 • 2013 ACR/ARHP Annual Meeting
Whole Exome Sequencing In Pediatric Patients With Early Onset Rare Immunodysregulatory Diseases That Present With Fever and Systemic Inflammation
Adriana Almeida de Jesus¹, Julie Niemela², Yin Liu³, Steven Boyden⁴, Ivona Aksentijevich⁵, Daniel L. Kastner⁶, Thomas A. Fleisher⁷, Raphaela Goldbach-Mansky³ and Zuoming Deng⁸, ¹Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ²Laboratory Medicine, NIH Clinical Center, Bethesda, MD, ³Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁴National Human Genome Research Institute, NIH, Bethesda, MD, ⁵Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁶Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ⁷Laboratory Medicine, Laboratory Medicine, NIH Clinical Center, Bethesda, MD, ⁸Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD
Background/Purpose: WES (Whole Exome Sequencing) has increasingly become the tool of choice in translational research, providing molecular diagnoses in Mendelian diseases and identifying important genes…
Abstract Number: 1143 • 2013 ACR/ARHP Annual Meeting
Increased Frequency Of Pratroling Monocytes In Experimental Arthritis and Rheumatoid Arthritis Patients In Response To IL6-R Blockade
Julie Quentin¹, Jessy Presumey², Florence Apparailly², Yves-Marie Pers³, Pascale Louis Plence⁴ and Christian Jorgensen³, ¹Inserm U844, Montpellier, France, ²U844, Inserm, Montpellier, France, ³Department of therapy & Immuno-Rhumatology, Inserm U844, CHU saint-Eloi, Université Montpellier 1, CHU Lapeyronie, Montpellier, France, ⁴INSERM U844 Montpellier, Montpellier, France
Background/Purpose: Monocytes represent a heterogeneous circulating population of immune cells that play important roles in the inflammatory response. Two main functional subsets of human monocytes…
Abstract Number: 2747 • 2013 ACR/ARHP Annual Meeting
Canakinumab Treatment In Schnitzler’s Syndrome: A Multi-Center Randomized Placebo-Controlled 4-Month Study
Karoline Krause, Karsten Weller, Martin Metz and Marcus Maurer, Dept. of Dermatology and Allergy, Allergie-Centrum-Charité, Charité – Universitätsmedizin Berlin, Germany, Berlin, Germany
Background/Purpose: Schnitzler’s syndrome (SchS) is an adult-onset autoinflammatory disease characterized by urticarial exanthema and monoclonal gammopathy in combination with episodes of fever, arthralgia, fatigue, and…
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…

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