Abstracts tagged "Autoinflammation"

Abstract Number: 2012 • 2018 ACR/ARHP Annual Meeting
The Novel G58V Mutation in the TNFRSF1A Gene Identified in a Family with Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) Decreases the Cell Surface Expression of TNFR1
Shoko Tsuji¹, Hidenori Matsuzaki², Tomoyuki Mukai¹, Akiko Nagasu¹, Hiroyasu Hirano¹, Masanori Iseki³, Takahiko Horiuchi⁴, Ryuta Nishikomori⁵ and Yoshitaka Morita¹, ¹Department of Rheumatology, Kawasaki Medical School, Kurashiki, Okayama, Japan, ²Department of Life Sciences, Faculty of Life and Environmental Sciences, Prefectural University of Hiroshima, Hiroshima, Japan, ³Department of Immunology and Molecular Genetics, Kawasaki Medical School, Kurashiki, Okayama, Japan, ⁴Department of Internal Medicine, Kyushu University Beppu Hospital, Beppu, Japan, ⁵Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan
Background/Purpose: TNF Receptor- Associated Periodic Syndrome (TRAPS) is one of the autoinflammatory diseases characterized by recurrent inflammatory episodes. TRAPS is caused by an autosomal dominant…
Abstract Number: 2854 • 2018 ACR/ARHP Annual Meeting
Majeed Syndrome Causing LPIN2 mutations May Prevent Bone “Healing” By Rendering M2 Macrophage Proinflammatory
Farzana Bhuyan¹, Adriana Almeida de Jesus¹, Rachel VanTries¹, Ronit Herzog², Karen Onel³, Bernadette Marrero¹, Yan Huang¹, Katherine R. Calvo⁴, Gina A. Montealegre Sanchez¹, Polly Ferguson⁵ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²NYU Langone Medical Center, New York, NY, ³Hospital for Special Surgery, New York, NY, ⁴Department of Laboratory Medicine, Hematology Section, National Institutes of Health Clinical Center, Bethesda, MD, ⁵Pediatrics, University of Iowa, Iowa City, IA
Background/Purpose: To study the mechanism that leads to bone inflammation in a 4-year old patient of mixed Puerto Rican and African-American background who presented with…
Abstract Number: 79 • 2017 ACR/ARHP Annual Meeting
Functional Analysis of the Novel G58V Mutation in the TNFRSF1A Gene Identified in a Family with TNF Receptor-Associated Periodic Syndrome (TRAPS)
Shoko Kodama¹, Hidenori Matsuzaki², Tomoyuki Mukai¹, Akiko Nagasu¹, Masanori Iseki³, Nami Kurosaki¹, Takafumi Mito¹, Shunichi Fujita¹, Takahiko Horiuchi⁴, Ryuta Nishikomori⁵ and Yoshitaka Morita¹, ¹Department of Rheumatology, Kawasaki Medical School, Kurashiki, Okayama, Japan, ²Department of Hygiene, Kawasaki Medical School, Kurashiki, Okayama, Japan, ³Department of Immunology and Molecular Genetics, Kawasaki Medical School, Kurashiki, Okayama, Japan, ⁴Department of Internal Medicine, Kyushu University Beppu Hospital, Beppu, Japan, ⁵Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan
Background/Purpose: Mutations in the TNFRSF1A, which encodes tumor necrosis factor receptor 1 (TNFR1), are associated with the autosomal dominant disease TNF Receptor- Associated Periodic Syndrome…
Abstract Number: 939 • 2017 ACR/ARHP Annual Meeting
Stimulator of Interferon Genes (STING)-Induced Endothelial-Mesenchymal Transition (EndMT) Contributes to Interstitial Lung Disease in Sting-Associated Vasculopathy with Onset in Infancy (SAVI) Patients
Louise Malle¹, Dan Yang², Adriana Almeida de Jesus¹, Guibin Chen², Bernadette Marrero¹, Gina A. Montealegre Sanchez¹, Yin Liu³, Gregor Dueckers⁴, Suzanne Ramsey⁵, Joseph Fontana⁶, Rachel VanTries¹, Yan Huang¹, Laisa Santiago⁷, Benito Gonzalez⁸, Paul Brogan⁹, Juergen Brunner¹⁰, Ebun Omoyinmi¹¹, Athimalaipet V. Ramanan¹², Amy Paller¹³, Olcay Y. Jones¹⁴, Seza Ozen¹⁵, Stephen R. Brooks¹⁶, Manfred Boehm¹⁷ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Studies (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Center for Molecular Medicine, NHLBI/NIH, Bethesda, MD, ³Scientific Review Branch, NIAMS/NIH, Bethesda, MD, ⁴Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Krefeld, Germany, ⁵Pediatric Rheumatology, IWK Health Centre, Dalhousie University, Halifax, NS, Canada, ⁶Cardiovascular and Pulmonary Branch, NHLBI/NIH, Bethesda, MD, ⁷Johns Hopkins All Children's Hospital Rheumatology, Saint Petersburg, FL, ⁸Luis Calvo Mackenna Hospital, Santiago, Chile, ⁹Infection Inflammation and Rheumatology, UCL Institute of Child Health, and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ¹⁰Division of Pediatric Rheumatology, Medical University Innsbruck, Innsbruck, Austria, ¹¹University College London Institute of Child Health, London, United Kingdom, ¹²Bristol Royal Hospital for Children, Bristol, United Kingdom, ¹³Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IN, ¹⁴Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD, ¹⁵Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁶Biodata Mining and Discovery Section, Office of Science and Technology, NIAMS/NIH, Bethesda, MD, ¹⁷Center for Molecular Medicine, NHLBI/ NIH, Bethesda, MD
Background/Purpose: Pulmonary fibrosis, is a life-threatening complication of the monogenic autoinflammatory interferonopathy, STING-Associated Vasculopathy with onset in Infancy (SAVI) that is caused by gain-of-function mutations…
Abstract Number: 1027 • 2017 ACR/ARHP Annual Meeting
Quantification of Leukocytes’ Secretome to Guide Diagnosis and Treatment Options in Patients with Suspected Chronic Auto-Inflammatory Syndromes
Philippe A. Tessier¹, Marie-Pier Longchamps¹, Nathalie Amiable¹, Nathalie Pagé¹, Laetitia Michou², Louis Bessette², Paul R. Fortin¹, Alexandra Albert², Anne-Laure Chetaille² and Martin Pelletier¹, ¹Infectious Diseases and Immunity Research Division, CHU de Québec-Université Laval Research Center, Québec, QC, Canada, ²Division of Rheumatology, Department of Medicine, CHU de Québec-Université Laval, Québec, QC, Canada
Background/Purpose: Auto-inflammatory syndromes are inherited conditions characterized by recurrent inflammation (fever, abdominal pain, dermatitis, arthritis). Diagnosis and treatments are challenging as detection rate of mutations…
Abstract Number: 2347 • 2017 ACR/ARHP Annual Meeting
High Interferon (IFN) Signatures and Overlapping Clinical Features Characterize Subgroups of Patients with Presumed IFN-Mediated Autoinflammatory Diseases
Adriana Almeida de Jesus¹, Yanfeng Hou², Louise Malle¹, Scott Canna³, Stephen R. Brooks⁴, Hanna Kim⁵, Gina A. Montealegre Sanchez¹, Rachel VanTries¹, Angélique Biancotto⁶, Samantha Dill⁵, Dawn C. Chapelle⁵, Bernadette Marrero¹, Yan Huang¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Studies (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Department of Rheumatology, Shandong Provincial Qianfoshan Hospital, Shandong University, Shandong, China, ³Richard King Mellon Foundation Institute for Pediatric Research, Children's Hospital of Pittsburgh, Pittsburrgh, PA, ⁴Biodata Mining and Discovery Section, Office of Science and Technology, NIAMS/NIH, Bethesda, MD, ⁵Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, ⁶Center for Human Immunology, Autoimmunity and Inflammation (CHI), NHLBI, NIH, Bethesda, MD
Background/Purpose: Many pediatric patients (pts.) with early-onset autoinflammatory disease (AID) phenotypes are mutation-negative for genetically known AIDs. Recent data suggest a role for Type-I interferon…
Abstract Number: 33 • 2017 Pediatric Rheumatology Symposium
An extracellular ionic milieu renders human granulocytic S100A12 into a pro-inflammatory TLR4-binding alarmin
Christoph Kessel¹, Sabrina Fuehner¹, Bastian Zimmermann², Dirk Holzinger¹, Helmut Wittkowski¹, Claas Hinze¹ and Dirk Foell¹, ¹Department of Pediatric Rheumatology and Immunology, University of Muenster, Muenster, Germany, ²Biaffin GmbH & Co KG, Kassel, Germany
Background/Purpose: Granulocytic S100A12 is a member of the calgranulin-subgroup within the S100 family of calcium-binding proteins. Similar to other S100 proteins S100A12 can bind divalent…
Abstract Number: 258 • 2016 ACR/ARHP Annual Meeting
Unmet Psychosocial Needs in Patients with CAPS
Jasmin B. Kuemmerle-Deschner¹, Gabi Erbis¹, Tetiana Sergiichuk¹, Sandra Hansmann¹, Iris Haug¹ and Susanne Benseler², ¹Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ²Pediatrics, University of Calgary, Calgary, AB, Canada
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disease. Generalized manifestations like recurrent fever and fatigue and organ disease like reduced vision, hearing loss,…
Abstract Number: 2037 • 2016 ACR/ARHP Annual Meeting
Proteostasis Dysregulation and Autoinflammation in Patients with TRNT1 Deficiency
Angeliki Giannelou¹, Qing Zhou², Hongying Wang³, Abu-Asab Mones⁴, Hong-Wei Sun⁵, Deborah L. Stone⁶, Amanda K. Ombrello⁷, Wanxia L. Tsai⁸, Stephen Brooks⁹, Jehad H. Edwan⁵, Kimberly Risma¹⁰, Lucie Sramkova¹¹, Abdullah Al Sonbul¹², Sarita Joshi¹³, Helen C. Su¹⁴, Karyl Barron¹⁴, Massimo G. Gadina¹⁵, Gustavo Gutierrez-Cruz⁵, Markus Hafner⁵, Ivona Aksentijevich¹⁶ and Daniel L. Kastner¹⁶, ¹National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ²National Human Genome Research Institute, National Institutes of Health, Inflammatory Disease Branch, Bethesda, MD, ³National Human Genome Research Institute, Bethesda, MD, ⁴National Eye Institute, National Institutes of Health, Bethesda, MD, ⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁶Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁷Inflammatory Disease Section, NHGRI, National Institutes of Health, Bethesda, MD, ⁸National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁹NIAMS/NIH, Bethesda, MD, ¹⁰Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ¹¹Charles University 2nd Faculty of Medicine and UH Motol, Prague, Czech Republic, ¹²King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia, ¹³Nationwide Children's Hospital, Columbus, OH, ¹⁴National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹⁵Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹⁶National Human Genome Research Institute, National Institutes of Health, Inflammatory Disease Section, Bethesda, MD
Background/Purpose: Hypomorphic mutations in the TRNT1gene result in a syndrome of sideroblastic anemia, immunodeficiency, periodic fevers and developmental delay (SIFD). The TRNT1 enzyme is essential…
Abstract Number: 2257 • 2016 ACR/ARHP Annual Meeting
Regulation of Mitochondrial Proton Gradient Is Critical for NLRP3 Inflammasome Activation
Jehad H. Edwan, Raphaela Goldbach-Mansky and Robert A. Colbert, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
Background/Purpose: Self-activating mutations in NLRP3 cause a spectrum of autoinflammatory diseases known as cryopyrin-associated periodic syndromes (CAPS). NLRP3 is a key component of a multiprotein…
Abstract Number: 2401 • 2016 ACR/ARHP Annual Meeting
Mucocutaneous Lesions and Recurrent Fevers in Patients with Trisomy 8 Mosaicism and Chromosome 8 Duplication
Kalpana Manthiram¹, Sandro Perazzio², Deborah Bruns³, Ivona Aksentijevich⁴, Troy R. Torgerson⁵ and Daniel L. Kastner⁴, ¹National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²Rheumatology, University of Washington School of Medicine and Seattle Children's Research Institute, Seattle, WA, ³Southern Illinois University Carbondale, Carbondale, IL, ⁴Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵Pediatric Immunology/Rheumatology, University of Washington School of Medicine & Seattle Children's Research Institute, Seattle, WA
Background/Purpose: Many patients with myelodysplastic syndromes with somatic trisomy 8 in the bone marrow and Behcet’s-like ulcerations have been described. A handful of patients with…
Abstract Number: 3207 • 2016 ACR/ARHP Annual Meeting
The Deficiency of Adenosine Deaminase Type 2 (DADA2)—Results of Anti-TNF Treatment in a Cohort of Patients with a History of Stroke
Amanda K. Ombrello¹, Karyl Barron², Patrycja Hoffmann¹, Camilo Toro³, Deborah L. Stone⁴, Gineth Pinto-Patarroyo⁴, Anne Jones⁴, Tina Romeo⁵, Ariane Soldatos⁶, Qing Zhou⁷, Natalie Deuitch⁵, Jing Qin², Ivona Aksentijevich⁴ and Daniel L. Kastner⁴, ¹Inflammatory Diseases Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ³NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁴Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁶National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, ⁷Inflammatory Disease Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
Background/Purpose: The deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive disease resulting from biallelic mutations in CECR1. Patients commonly present with vascular…
Abstract Number: 253 • 2015 ACR/ARHP Annual Meeting
Multiple Serum Cytokine Profiling to Identify Specific Molecular Networks in Attacks of Familial Mediterranean Fever
Tomohiro Koga¹, Kiyoshi Migita², Shuntaro Sato³, Masataka Umeda⁴, Shoichi Fukui⁵, Ayako Nishino⁴, Shinya Kawashiri⁶, Naoki Iwamoto⁵, Kunihiro Ichinose⁵, Mami Tamai⁵, Hideki Nakamura⁵, Tomoki Origuchi⁷, Yukitaka Ueki⁸, Kazunaga Agematsu⁹, Katsumi Eguchi¹⁰ and Atsushi Kawakami⁴, ¹Departments of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, ²Department of Rheumatology and Clinical Research Center, Nagasaki Medical Center, Omura, Japan, ³Clinical Research Center, Nagasaki University Hospital, Nagasaki, Japan, ⁴Department of Immunology and Rheumatology, Nagasaki University, Nagasaki, Japan, ⁵Department of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, ⁶Department of Public Health, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, ⁷Department of Rehabilitation Sciences, Nagasaki University, Nagasaki, Japan, ⁸Rheumatic and Collagen Disease Center, Sasebo Chuo Hospital, Sasebo, Japan, ⁹Department of Infectious Immunology, Shinshu University, Graduate School of Medicine, Shinshu, Japan, ¹⁰Department of Rheumatology, Sasebo Chuo Hospital, Sasebo, Japan
Background/Purpose: Familial mediterranean fever (FMF) is caused by a number of mutations of the MEFV gene, coding for a protein named pyrin that acts as…
Abstract Number: 258 • 2015 ACR/ARHP Annual Meeting
Quality of Life Changes with Canakinumab Therapy in Adults with Colchicine Resistant FMF
Ahmet Gul¹, Huri Ozdogan², Ozgur Kasapcopur³, Burak Erer⁴, Serdal Ugurlu⁵, S. Sevgi⁶ and Soner Turgay⁷, ¹Department of Internal Medicine, Rheumatology Division, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ²Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey, ³Istanbul University, Cerrahpasa Medical School, Department of Pediatric Rheumatology, Professor of Pediatric Rheumatology, Istanbul, Turkey, ⁴Istanbul Faculty of Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ⁵Rheumatology, Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey, ⁶Novartis Pharma, Istanbul, Turkey, ⁷Medical, Novartis Pharma, İstanbul, Turkey
Background/Purpose: Introduction:Familial Mediterranean Fever (FMF), the most common form of the hereditary autoinflammatory disorders, is characterized by recurrent attacks of fever along with serosal or…
Abstract Number: 263 • 2015 ACR/ARHP Annual Meeting
Use of Serum Ferritin and Heme Oxygenase 1 for the Diagnosis of Adult-Onset Still’s Disease: A Preliminary Report of Multicenter Study
Yohei Kirino¹, Yasushi Kawaguchi², Yoshifumi Tada³, Seiji Minota⁴, Toshiyuki Ota⁵, Kohei Nagasawa⁶, Hiroshi Tsukamoto⁷, Syuji Takei^8,9, Takahiko Horiuchi¹⁰, Hiroki Takahashi¹¹, Hisae Ichida², Masahiro Iwamoto⁴, Atsuhisa Ueda¹, Akihide Ohta¹², Yoshiaki Ishigatsubo^1,13 and Hypercytokinemia Study Group, ¹Department of Internal Medicine and Clinical Immunology, Yokohama City University Graduate School of Medicine, Yokohama, Japan, ²Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, ³Department of Internal Medicine, Division of Rheumatology, Saga University, Saga, Japan, ⁴Department of Internal Medicine, Division of Rheumatology/Clinical Immunology, Jichi Medical University, Shimotsuke, Japan, ⁵Department of Rheumatology, Iizuka Hospital, Iizuka, Japan, ⁶Rheumatic Disease Center, Sawara Hospital, Fukuoka, Japan, ⁷First Dept of Internal Med, Kyushu University, Fukuoka, Japan, ⁸School of Health Sciences, Faculty of Medicine,, Kagoshima University, Kagoshima City, Japan, ⁹School of Health Sciences, Faculty of Medicine, Kagoshima University, Kagoshima, Japan, ¹⁰Department of Internal Medicine, Kyushu University Beppu Hospital, Beppu, Japan, ¹¹epartment of Gastroenterology, Rheumatology and Clinical Immunology, Sapporo Medical University School of Medicine, Sapporo, Japan, ¹²Department of Adult and Gerontological Nursing, Saga University School of Medicine, Saga, Japan, ¹³Yokosuka Rheumatic Diseases Center, Yokosuka City Hospital, Yokosuka, Japan
Background/Purpose: Yamaguchi's criteria for classification of adult-onset Still's disease (AOSD) has been widely applied in clinic despite it was established decades ago. However, hyperferritinemia, which…

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