Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0083 • ACR Convergence 2020
Chronic Nonbacterial Osteomyelitis Is Associated with HLA-B*27
Daire O'Leary¹, Orla Killeen² and Anthony Wilson¹, ¹UCD Centre for Arthritis Research, Dublin, Ireland, ²National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an auto-inflammatory condition primarily affecting children with an estimated prevalence of 1 per 105 - 106. It is characterized…
Abstract Number: 0947 • ACR Convergence 2020
STING Gain-of-Function in Radio-resistant Cells Supports a Lymphocyte Dependent Auto-inflammatory Lung Disease
Kevin Gao¹, Mona Motwani¹, Ann Marshak-Rothstein² and Katherine Fitzgerald¹, ¹University of Massachusetts medical school, worcester, MA, ²University of Massachusetts medical school, Newton, MA
Background/Purpose: cGAS-STING is a cytosolic dsDNA sensing pathway whose regulation is vital to immune homeostasis. Pediatric patients with constitutively active STING mutations develop an autoinflammatory…
Abstract Number: 1455 • ACR Convergence 2020
Functional Characterization of PLCG2 Mutations Found in Subjects with Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) Reveals Both Hypermorphic and Hypomorphic Mutants
Kathleen Baysac¹, Charles Fisher², Hiroto Nakano², Joshua Milner³ and Michael Ombrello⁴, ¹NIAMS, NIH, Bethesda, MD, ²NIAMS, NIH, Bethesda, ³Division of Allergy, Immunology and Rheumatology Columbia University Medical Center, New York, NY, ⁴Translational Genetics and Genomics Unit, NIAMS, NIH, Bethesda, MD
Background/Purpose: PLCG2-associated antibody deficiency and immune dysregulation (PLAID) and autoinflammatory PLAID (APLAID) are autosomal dominant diseases caused by mutations of PLCG2. APLAID is clinically characterized by episodic…
Abstract Number: 0095 • ACR Convergence 2020
Systematic Evaluation of Nine Monogenic Autoinflammatory Diseases Reveals Common and Disease-Specific Correlations with Allergy-Associated Features
Moses Kitakule¹, Brian Dizon², Cristhian Gutierrez-Huerta¹, Sarah Blackstone², Aarohan Burma¹, Aran Son¹, Natalie Deuitch¹, Sofia Rosenzweig¹, Hirsh Komarow¹, Deborah Stone³, Anne Jones⁴, Michele Nehrbecky¹, Patrycja Hoffmann⁵, Tina Romeo⁶, Adriana de Jesus⁷, Sara Alehashemi⁸, Megha Garg⁹, Sofia Torreggiani¹⁰, Gina Montealegre Sanchez¹¹, Katelin R. Honer¹⁰, Karyl Barron¹, Ivona Aksentijevich⁴, Amanda Ombrello¹², Raphaela Goldbach-Mansky¹³, Daniel Kastner¹⁴, Joshua Milner¹⁵, Pamela Frischmeyer-Guerrerio¹ and Daniella Schwartz¹⁶, ¹National Institutes of Health, Bethesda, ²National Institutes of Health, BETHESDA, MD, ³NIH, Bethesda, ⁴National Human Genome Research Institute, Bethesda, MD, ⁵NIH, Vienna, VA, ⁶NIH, Bethesda, MD, ⁷Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ⁸Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ⁹NIH/NIAID, Rochester, NY, ¹⁰Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ¹¹NIAID/NIH, Rockville, MD, ¹²National Human Genome Research Institute/National Institutes of Health, Bethesda, MD, ¹³Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD, ¹⁴National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, ¹⁵Division of Allergy, Immunology and Rheumatology Columbia University Medical Center, New York, NY, ¹⁶National Institutes of Health Clinical Center, Bethesda, MD
Background/Purpose: Monogenic autoinflammatory diseases (AID) are caused by mutations in innate immune signaling genes. The effect of these mutations on the risk of allergy is…
Abstract Number: 0965 • ACR Convergence 2020
Repetitive Inhalant Lipopolysaccharide Exposure in the Setting of Arthritis Induction Potentiates Pro-Fibrotic Inflammatory Lung Disease in Mice
Madison Wolfe¹, Ted Mikuls¹, Geoffrey Thiele¹, Amy Nelson¹, Michael Duryee¹, Rohit Gaurav¹, Bryant England¹, Debra Romberger¹ and Jill Poole¹, ¹University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Rheumatoid arthritis (RA) is associated with several lung diseases. Various airborne exposures have been implicated as RA disease risk factors including cigarette smoke and…
Abstract Number: 1479 • ACR Convergence 2020
Long-Term Effectiveness of Canakinumab in Autoinflammatory Diseases – Interim Analysis of the CAPS Subgroup from the RELIANCE Registry
Jasmin Kuemmerle-Deschner¹, Birgit Kortus-Goetze², Michael Borte³, Ivan Foeldvari⁴, Gerd Horneff⁵, Ales Janda⁶, Tilmann Kallinich⁷, Prasad T. Oommen⁸, Catharina Schuetz⁹, Frank Weller-Heinemann¹⁰, Julia Weber-Arden¹¹ and Norbert Blank¹², ¹University Hospital Tuebingen, Tuebingen, Germany, ²Division of Nephrology, University of Marburg, Germany, Marburg, Germany, ³ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg gGmbH Leipzig, Germany, Leipzig, Germany, ⁴Head of the Hamburg Centre for Pediatric and Adolescence Rheumatology, Budapest, Hungary, ⁵Asklepios Clinic Sankt Augustin, Sankt Augustin, Germany, ⁶Department of Pediatrics, University Hospital Ulm, Germany, Ulm, Germany, ⁷Charite, Berlin, Germany, ⁸Clinic of Pediatric Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, ⁹Department of Pediatric Immunology, University Hospital Dresden, Dresden, Germany, Dresden, Germany, ¹⁰Klinikum Bremen-Mitte, Prof. Hess Kinderklinik, Bremen, Germany, Bremen, Germany, ¹¹Novartis Pharma GmbH, Nuremberg, Germany, ¹²Department of Hematology, Oncology and Rheumatology, Internal Medicine V, University Hospital of Heidelberg, Eppelheim, Germany
Background/Purpose: In the treatment of monogenic autoinflammatory diseases (AID), a heterogeneous group of diseases with excessive interleukin (IL)-1β release and severe systemic and organ inflammation,…
Abstract Number: 0097 • ACR Convergence 2020
Does Testing for SAA Is More Beneficial Than CRP for the Follow-up of Patients with FMF?
Mert Oztas¹, Serdal Ugurlu¹, Oguzhan Selvi², Bilgesu Ergezen¹ and Huri Ozdogan¹, ¹Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Okmeydani Research and Training Hospital, Istanbul, Turkey
Background/Purpose: In order to follow subclinical inflammation and adjust the therapy for an optimal disease control, clinicians seek for readily accessible, affordable and reproducible markers.…
Abstract Number: 1035 • ACR Convergence 2020
Study of Ocular Sarcoidosis and Clusters of Clinical Associations in a Series of 383 Patients with Systemic Sarcoidosis from a Single Hospital
Inigo Gonzalez-Mazon¹, Carmen Alvarez-Reguera², Lara Sanchez-Bilbao², David Martinez-Lopez³, Alba Herrero Morant², Jorge Javier Gaitan-Valdizan⁴, Raul Fernandez-Ramon², Rosalia Demetrio-Pablo² and Ricardo Blanco², ¹Hospital Universitario Marques de Valdecilla, Bezana, Spain, ²Hospital Universitario Marques de Valdecilla, Santander, Spain, ³Hospital Universitario Marques de Valdecilla, Santander (SPAIN), Spain, ⁴Hospital Universitario Marqués de Valdecilla, Santander, Spain
Background/Purpose: Sarcoidosis is an inflammatory disease which can affect multiple organs. The most frequent affected organs are lungs, skin and eyes. Ocular involvement is a…
Abstract Number: 1531 • ACR Convergence 2020
Characterization of Cytokine/chemokine Profile in Patient-derived M1/ M2 Macrophages to Identify Biomarkers for Genetically-defined Systemic Autoinflammatory Diseases
Farzana Bhuyan¹, Adriana Almeida de Jesus², Kim Johnson³, Jacob Mitchell⁴, Yan Huang⁵ and Raphaela Goldbach-Mansky⁵, ¹NIH, bhetesda, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ³NIH, NIAID, Bethesda, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ⁵NIH, Bethesda
Background/Purpose: Genetic mutations in key regulatory molecules of the innate immune system cause autoinflammatory diseases through propagation of hyperinflammatory responses. Monocytes/ macrophages regulate inflammatory processes…
Abstract Number: 0161 • ACR Convergence 2020
Validation of Patient-reported Outcomes (PRO) Lung Questionnaires for Systemic Juvenile Idiopathic Arthritis (SJIA) Patients at Risk for Lung Disease
Kim Nguyen¹, Christopher Towe², Shima Yasin³, Alexei Grom⁴, Hermine I Brunner⁵ and Grant Schulert⁵, ¹Veterans Affairs Cincinnati, University of Cincinnati Medical Center, Cincinnati, ²Cincinnati Children's Medical Hospital Center, Cincinnati, ³Cincinnati Children's Hospital Medical Center, Cincinnati, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵PRCSG, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
Background/Purpose: Systemic Juvenile Idiopathic Arthritis (SJIA) involves dysregulation of inflammation and innate immunity, and can cause life-threatening complications including lung disease (LD). However, there are…
Abstract Number: 1063 • ACR Convergence 2020
Spirulina Stimulates Inflammatory Cytokine Production Through the STING and TLR Pathways in Dermatomyositis in Vitro
Christina Bax¹, Yubin Li¹, Spandana Maddukuri², Adarsh Ravishankar³, Jay Patel³, Daisy Yan¹, Josef Symon Concha¹ and Victoria Werth¹, ¹University of Pennsylvania and the Michael J. Crescenz VA Medical Center, Philadelphia, PA, ²University of Pennsylvania and the Michael J. Crescenz VA Medical Center, Montville, NJ, ³University of Pennsylvania and the Michael J. Crescenz VA Medical Center, Philadelphia
Background/Purpose: Spirulina, a popular herbal supplement, stimulates the immune system, as determined by in vitro and in vivo studies. Our recent epidemiologic data suggest that Spirulina…
Abstract Number: 1578 • ACR Convergence 2020
Rituximab Hypersensitivity in Rheumatic and Inflammatory Diseases: Role of Skin Testing
Sravani Penumarty¹, Javier Quintero Betancourt², Eugenio Capitle² and Reena Khianey², ¹Rutgers, Eastvale, CA, ²Rutgers, Newark, NJ
Background/Purpose: Infusion-related reactions have been reported with rituximab, a monoclonal antibody targeting the CD20 antigen on B cells, and may result in discontinuation of the…
Abstract Number: 0162 • ACR Convergence 2020
Identifying Sleep Problems in Systemic Juvenile Idiopathic Arthritis (SJIA) Patients with Patient-reported Outcomes (PRO) Questionnaires
Kim Nguyen¹, Christopher Towe², Shima Yasin³, Alexei Grom⁴, Hermine I Brunner⁵ and Grant Schulert⁵, ¹Veterans Affairs Cincinnati, University of Cincinnati Medical Center, Cincinnati, ²Cincinnati Children's Medical Hospital Center, Cincinnati, ³Cincinnati Children's Hospital Medical Center, Cincinnati, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵PRCSG, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
Background/Purpose: Systemic Juvenile Idiopathic Arthritis (SJIA) can cause severe and chronic multisystem involvement. Medical therapies including high-dose corticosteroids can have significant side effects affecting sleep.…
Abstract Number: 1152 • ACR Convergence 2020
IL-18: A Biomarker That Reflects Disease Activity, Could It Be the Next Disease Activity Measure in Systemic Juvenile Idiopathic Arthritis?
Shima Yasin¹, Thuy Do², Sanjeev Dhakal², Elizabeth Baker², Alexei Grom³ and Grant Schulert⁴, ¹Cincinnati Children's Hospital Medical Center, Liberty twp, OH, ²Cincinnati Children's Hospital Medical Center, Cincinnati, ³Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴PRCSG, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a childhood arthritis with prominent innate immune activity. Disease presentation and flares could largely mimic infections with fever…
Abstract Number: 1636 • ACR Convergence 2020
8 Years Follow-Up of a Novel Autoinflammatory Disease: CD59 Malfunction Causes Hemolytic Anemia, Recurrent Guillain-Barre Syndrome, and Strokes in Pediatric Populations and Respond Well to Eculizumab and Pozelimab
Dror Mevorach¹ and Netanel Karbian¹, ¹Hadassah-University Hospital, Jerusalem, Yerushalayim, Israel
Background/Purpose: In 2013 we have described the first patients with a novel autoinflammatory disease manifested in 4 children with recurrent Guillain-Barre syndrome and hemolytic anemia…

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