Abstracts tagged "Autoinflammatory Disease"

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…
Abstract Number: 2750 • 2013 ACR/ARHP Annual Meeting
Long-Term Efficacy and Safety Of IL1 Receptor Antagonist In Schnitzler’s Syndrome : A French Multicenter Study
Antoine Néel¹, Agathe Masseau¹, Sebastien Barbarot², Benoit Henry³, Pierre-Jean Weiller⁴, Olivier Decaux⁵, Xavier Kyndt⁶, Xavier Puechal⁷, Arnaud Hot⁸, Pierre Pottier¹, Amar Smail⁹, David Launay¹⁰, Jean-Marie Berthelot¹¹, Eric Hachulla¹², Leonardo Astudillo¹³, Pierre-Yves Hatron¹², Laurent Sailler¹³, Aurelien Lorleac'h¹⁴, Achille Aouba¹⁵, Bérangère Cador¹⁶, Renato Fior¹⁷, Robin Dhote¹⁸, Fabrice Bonnet¹⁹, Jean-Dominique de Korwin²⁰ and Mohamed Hamidou¹, ¹Internal Medicine Department, Nantes University Hospital, Nantes, France, ²Dermatology, Nantes University Hospital, Nantes, France, ³Infectious and Tropical Diseases, Pitié-Salpêtrière University Hospital, Paris, France, ⁴Internal Medicine Department, La Timone University Hospital, Marseille, France, ⁵Department of Internal Medicine, Rennes University Hospital, Rennes, France, ⁶Department of Nephrology and Internal Medicine, CH, Valenciennes, Valenciennes, France, ⁷Internal Medicine, Hôpital Cochin, Paris, France, ⁸Internal Medicine, Edouard Herriot University Hospital, Lyon, France, ⁹Internal Medicine Department, CHU Amiens Nord, Amiens, France, ¹⁰Internal Medicine, Claude Huriez University Hospital, Lille, France, ¹¹Rheumatology Unit, Nantes University Hospital, Nantes, France, ¹²Department of Internal Medicine, Claude Huriez University Hospital, Lille, France, ¹³Department of Internal Medicine, Toulouse University Hospital, Toulouse, France, ¹⁴Internal Medicine Department, Lorient Hospital, Lorient, France, ¹⁵Hematology, Necker University Hospital, Paris, France, ¹⁶Internal Medicine Department, Rennes University Hospital, Rennes, France, ¹⁷Internal Medicine Department, Antoine Béclère University Hospital, Clamart, France, ¹⁸Internal Medicine, Avicenne University Hospital, Bobigny, France, ¹⁹Internal Medicine, Bordeaux University Hospital, Bordeaux, France, ²⁰Internal Medicine Department, Nancy University Hospital, Nancy, France
Background/Purpose: Schnitzler's syndrome is a rare late onset auto-inflammatory disease which associates a chronic/recurrent urticarial skin rash, a monoclonal gammopathy (mostly IgM kappa), and a…
Abstract Number: 2613 • 2013 ACR/ARHP Annual Meeting
NF-κB Pathway Is Depleted In Phagocytes From Behçet´s Disease Patients Secondarily To Constitutive Phosphorylation Of The p65 Subunit
Sandro F. Perazzio^1,2, Paulo Vitor Soeiro Pereira³, Alexandre W.S. Souza^4,5, Antonio Condino-Neto³ and Luis Eduardo C. Andrade⁶, ¹Rheumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo, Sao Paulo, Brazil, ²Fleury Medicine and Health, Sao Paulo, Brazil, ³Immunology, ICB IV - Universidade de São Paulo, São Paulo, Brazil, ⁴University Medical Center Groningen, Groningen, Netherlands, ⁵Rheumatology Div/Dept of Med, Escola Paulista de Medicina - Universidade Federal de São Paulo, Sao Paulo, Brazil, ⁶Rheumatology Division, Escola Paulista de Medicina - Universidade Federal de São Paulo, Sao Paulo, Brazil
Background/Purpose: : Increased neutrophil activation has been previously shown in Behçet’s disease (BD) patients and it is unclear whether neutrophil activation occurs constitutively or if…

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