Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 255 • 2016 ACR/ARHP Annual Meeting
Safety and Efficacy of Long-Term Canakinumab Therapy in Patients with CAPS: Final Results from Beta-Confident Registry
Hal M. Hoffman¹, Jasmin B. Kuemmerle-Deschner², Philip N. Hawkins³, Tom van der Poll⁴, Ulrich A. Walker⁵, Antonio Speziale⁶, Yolandi Joubert⁶ and Hugh H. Tilson⁷, ¹Division of Rheumatology, Allergy, and Immunology, University of California at San Deigo, La Jolla, CA, ²Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ³University College London Medical School, London, United Kingdom, ⁴Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands, ⁵Department of Rheumatology, University Hospital Basel, Basel, Switzerland, ⁶Novartis Pharma AG, Basel, Switzerland, ⁷University of North Carolina, Gillings School of Global Public Health, Chapel Hill, NC
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) is a rare auto-inflammatory disease encompassing a spectrum of 3 phenotypes: familial cold auto-inflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS), and…
Abstract Number: 257 • 2016 ACR/ARHP Annual Meeting
CNS Manifestations of Patients with Muckle-Wells Syndrome
sara Sebnem KILIC¹, sukru cekic² and Juan Aróstegui³, ¹Pedaitric Rheumatology, Prof Dr, Bursa, Turkey, ²Dr, Bursa, Turkey, ³Prof, Barcelona, Spain
Background/Purpose: CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta…
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: 252 • 2015 ACR/ARHP Annual Meeting
Pyrin (MEFV) Mutations in New York: Revisiting the Mount Sinai Experience with Periodic Fever and Serositis
Daniel Bunker and Mark Matza, Medicine, Mount Sinai Medical Center, New York, NY
Background/Purpose: In 1945, Dr. Sheppard Siegel, a Mount Sinai allergist, described 5 patients with “Benign Paroxysmal Peritonitis,” a disorder now recognized as Familial Mediterranean Fever…
Abstract Number: 937 • 2015 ACR/ARHP Annual Meeting
Safety and Efficacy of Canakinumab in Patients with CAPS: Interim Results from the Beta-Confident Registry
Jasmin B. Kuemmerle-Deschner¹, Hal M. Hoffman², Philip N. Hawkins³, T. van der Poll⁴, Ulrich A. Walker⁵, Antonio Speziale⁶ and Hugh H. Tilson⁷, ¹University Hospital Tuebingen, Tuebingen, Germany, ²Division of Rheumatology, Allergy, and Immunology, University of California at San Deigo, La Jolla, CA, ³University College London Medical School, London, United Kingdom, ⁴Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands, ⁵Rheumatology, University Hospital, Basel, Basel, Switzerland, ⁶Novartis Pharma AG, Basel, Switzerland, ⁷University of North Carolina, Gillings School of Global Public Health, Chapel Hill, NC
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS), is a rare autoinflammatory disease encompassing a spectrum of 3 phenotypes with an estimated population frequency ranging from 1-3 per…
Abstract Number: 1025 • 2015 ACR/ARHP Annual Meeting
Interstitial Lung Disease in Sting-Associated Vasculopathy with Onset in Infancy (SAVI): Genotype-Phenotype Correlation
Louise Malle¹, Bernadette Marrero¹, Yin Liu², Gina A. Montealegre Sanchez¹, Dawn C. Chapelle¹, Hanna Kim^1,3, Michelle O'Brien¹, Suzanne Ramsey⁴, Gregor Dueckers⁵, Seza Ozen^6,7, Helmut Wittkowski⁸, Dirk Föll⁹, Klaus Tenbrock¹⁰, Olcay Y. Jones¹¹, Steven M. Holland¹², Joseph Fontana¹³, Yan Huang¹, Benito Gonzalez¹⁴, Paul Brogan¹⁵, Juergen Brunner¹⁶, Athimalaipet V Ramanan¹⁷, Tom Hilliard¹⁷, Laisa Santiago¹⁸, AnneMarie Brescia¹⁹, Amy Paller²⁰, Stephen Brooks²¹, Zuoming Deng²², Adriana Almeida de Jesus¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD, ²Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ³Pediatric Rheumatology, Alfred I duPont Hospital for Children, Wilmington, DE, ⁴Pediatric Rheumatology, IWK Health Centre, Halifax, NS, Canada, ⁵Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Krefeld, Germany, ⁶Paediatric Rheumatology International Trials Organization (PRINTO), Istituto Giannina Gaslini, Genova, Italy, ⁷Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ⁸Pediatrics, University of Muenster, Muenster, Germany, ⁹University of Muenster, Muenster, Germany, ¹⁰University Aachen, Aachen, Germany, ¹¹Rheumatology, George Washington University, Washington, DC, ¹²Laboratory of Clinical Infectious Disease, NIAID, NIH, Bethesda, MD, ¹³NHLBI, NIH, Bethesda, MD, ¹⁴Luis Calvo Mackenna Hospital, Santiago, Chile, ¹⁵UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ¹⁶Universitätsklinik für Kinder- u. Jugendheilkunde, Innsbruck, Austria, ¹⁷Bristol Royal Hospital for Children, Bristol, United Kingdom, ¹⁸All Children's Hospital Rheumatology, Saint Petersburg, FL, ¹⁹Jefferson Medical College/ A.I. Dupont Hospital for Children, Willmington, DE, ²⁰Departments of Dermatology and Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA;, Chicago, IL, ²¹NIAMS/NIH, Bethesda, MD, ²²Biodata Mining & Discovery, NIAMS/NIH, Bethesda, MD
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is an IFN-mediated disease caused by gain-of-function mutations in TMEM173, the gene encoding the stimulator of interferon…
Abstract Number: 1360 • 2015 ACR/ARHP Annual Meeting
Functional Consequences of NOD2 Gene Variants in Patients with NOD2-Associated Autoinflammatory Disease
Christine McDonald¹, Min Shen¹, Amrita Kabi¹, Craig Homer¹ and Qingping Yao², ¹Cleveland Clinic, Cleveland, OH, ²Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH
Background/Purpose: Yao Syndrome (YS) is a systemic autoinflammatory disease formerly termed Nucleotide-binding oligomerization domain 2 (NOD2)-associated AutoInflammatory Disease (NAID) due to its association with specific…
Abstract Number: 1449 • 2015 ACR/ARHP Annual Meeting
The Effect of IL-1 Receptor Antagonist Anakinra (Kineret®) on Measures of Central Nervous System Inflammation and Headaches in Pediatric Patients with Severe Cryopyrin-Associated Periodic Syndromes
Hans Olivecrona¹, Raphaela Goldbach-Mansky², Torbjörn Kullenberg¹ and Mika Leinonen³, ¹Swedish Orphan Biovitrum, Stockholm, Sweden, ²Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD, ³4Pharma AB, Stockholm, Sweden
Background/Purpose: Cryopyrin-Associated Periodic Syndromes (CAPS) include a group of rare inherited autoinflammatory diseases consisting of Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome and the most…
Abstract Number: 1453 • 2015 ACR/ARHP Annual Meeting
Surveillance of Periodic Fever Syndromes in Canada
Paul Dancey^1,2, Susanne Benseler³, Marco Gattorno⁴, Anne K Junker⁵, Ronald Laxer⁶, Paivi Miettunen⁷ and Lesley Ann Turner⁸, ¹Health Science Centre, Memorial University of Newfoundland, St Johns, NF, Canada, ²Pediatrics, Janeway Children's Hospital, St. John's, NF, Canada, ³Pediatrics/Alberta Children's Hospital, Department of Pediatrics/University of Calgary, Calgary, AB, Canada, ⁴Pediatry, G. Gaslini Institute, Genova, Italy, ⁵University of British Columbia, Vancouver, BC, Canada, ⁶The Hospital for Sick Children, Toronto, ON, Canada, ⁷University of Calgary, Calgary, AB, Canada, ⁸Memorial University, St. John's, NF, Canada
Background/Purpose: To estimate the incidence of periodic fever syndromes in the Canadian paediatric population, to describe the patterns of presentation, and to raise awareness in…
Abstract Number: 1454 • 2015 ACR/ARHP Annual Meeting
Familial Mediterranean Fever in Childhood: a Single Center Experience
Kenan Barut¹, Ada Bulut Sinoplu², Gozde Yucel³, Gizem Pamuk², Amra Adrovic⁴, Sezgin Sahin⁴ and Ozgur Kasapcopur⁵, ¹Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University., Fellow in Pediatric Rheumatology, Istanbul, Turkey, ²Department of Pediatric Rheumatology, Cerrahpaşa Medical School, Istanbul University., Resident in Pediatrics, Istanbul, Turkey, ³Department of Pediatric Rheumatology, CerrahpaÅŸa Medical School, Istanbul University., Resident in Pediatrics, Istanbul, Turkey, ⁴Department of Pediatric Rheumatology, Cerrahpaşa Medical School, Istanbul University., Fellow in Pediatric Rheumatology, Istanbul, Turkey, ⁵Istanbul University, Cerrahpasa Medical School, Department of Pediatric Rheumatology, Professor of Pediatric Rheumatology, Istanbul, Turkey
Background/Purpose: Familial Mediterranean fever (FMF) is an autosomal recessively inherited autoinflammatory disease which is clinically manifested with periodic episodes of fever, polyserositis and arthritis. The…
Abstract Number: 1484 • 2015 ACR/ARHP Annual Meeting
Development and Validation of Juvenile Autoinflammatory Disease Multidimensional Assessment Report (JAIMAR)
Dilek Konukbay¹, Dilek Yildiz¹, Cengizhan Acikel^2,3, betul sozeri⁴, Balahan Makay⁵, Nuray Aktay Ayaz Sr.⁶, Kenan Barut⁷, Aysenur Kisaarslan⁸, Yelda Bilginer⁹, Harun Peru¹⁰, Ozlem Aydog¹¹, Erbil Unsal¹², Ozgur Kasapcopur¹³, Zubeyde Gunduz⁸, Seza Ozen¹⁴ and Erkan Demirkaya¹⁵, ¹Gulhane Military Medical Faculty, Ankara, Turkey, ²Biostatistics, Gulhane Military Medical Faculty, Ankara, Turkey, ³Department of Bioistatistics, Gulhane Military Medical Academy, Ankara, Turkey, ⁴Pediatric Rheumatology, Ege University Faculty of Medicine, Izmir, Turkey, ⁵Pediatric Rheumatology, Eylul University, Izmir, Turkey, ⁶Pediatric Rheumatology, Istanbul KSS Education and Research Hospital, Istanbul, Turkey, ⁷Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University., Fellow in Pediatric Rheumatology, Istanbul, Turkey, ⁸Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri, Turkey, ⁹Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁰Pediatric Rheumatology, Selcuklu Medical Faculty, Konya, Turkey, ¹¹Pediatric Rheumatology, Dr. Sami Ulus Children's Hospital, Ankara, Turkey, ¹²Pediatric Rheumatology, 9 Eylul University Faculty of Medicine, Izmir, Turkey, ¹³Pediatric Rheumatology, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey, ¹⁴Deptartment. of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey, ¹⁵Pediatric Rheumatology, Gulhane Military Medical Academy, FMF Arthritis Vasculitis and Orphan disease Research Center (FAVOR),, Ankara, Turkey
Background/Purpose: There are lots of effects of auto-inflammatory diseases (e.g. pain, fatigue, fear of attack, lifelong drug use, being nervous and angry, problems at school)…
Abstract Number: 2433 • 2015 ACR/ARHP Annual Meeting
Anti Interferon-Gamma (IFNg) Monoclonal Antibody Treatment in a Child with NLRC4-Related Disease and Severe Hemophagocytic Lymphohistiocytosis (HLH)
Claudia Bracaglia¹, Giusi Prencipe¹, Antonio Gatto², Manuela Pardeo¹, Geneviève Lapeyre³, Luigi Raganelli¹, Emiliano Marasco², Antonella Insalaco², Walter Ferlin³, Robert Nelson³, Cristina de Min³ and Fabrizio De Benedetti¹, ¹Department of Pediatric Medicine, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, ²Pediatric Medicine, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, ³NovImmune S.A., Geneva, Switzerland
Background/Purpose: Animal and humans data suggest that IFNγ plays a pathogenic role in HLH. A pilot trial in primary HLH with NI-0501, an anti-IFNγ monoclonal…
Abstract Number: 2465 • 2015 ACR/ARHP Annual Meeting
Cytokine Profile Comparison of Monogenic and Complex Conditions with Interferon-Regulated Gene Signatures in Chronic Atypical Neutrophilic Dermatosis with Lipodsytrophy and Elevated Temperature (CANDLE), SAVI, Aicardi-Goutieres Syndrome, JDM, and SLE
Hanna Kim¹, Yin Liu², Adriana Almeida de Jesus¹, Robert Wesley³, Yan Huang¹, Gina A. Montealegre Sanchez¹, Dawn C. Chapelle¹, Wanxia L. Tsai⁴, Massimo G. Gadina⁴, Frederick W. Miller⁵, Sarfaraz Hasni⁶, Adeline Vanderver⁷, Lisa G Rider⁵ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD, ²Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ³Clinical Center, National Institutes of Health, Bethesda, MD, ⁴Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁵Environmental Autoimmunity Group, NIEHS, NIH, Bethesda, MD, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁷Pediatric Neurology, Children's National Medical Center, Washington, DC
Background/Purpose: An Interferon (IFN) Regulated Gene Signature (IRS) was previously reported in patients with two complex autoimmune diseases, juvenile systemic lupus (JSLE)1 and juvenile dermatomyositis…
Abstract Number: 3093 • 2015 ACR/ARHP Annual Meeting
Development and Validation of Diagnostic Criteria for Cryopyrin Associated Periodic Syndromes
Jasmin B. Kuemmerle-Deschner¹, Seza Ozen², Pascal N. Tyrrell³, Isabelle Koné-Paut⁴, Raphaela Goldbach-Mansky⁵, Helen Lachmann⁶, Norbert Blank⁷, Hal M. Hoffman⁸, Elisabeth Weissbarth-Riedel⁹, Boris Huegle¹⁰, Tilmann Kallinich¹¹, Marco Gattorno¹², Ahmet Gul¹³, Nienke M. ter Haar¹⁴, Marlen Oswald¹⁵, Fatma Dedeoglu¹⁶ and Susanne M. Benseler¹⁷, ¹Universitätsklinikum Tübingen, Klinik fuer Kinder- und Jugendmedizin, Tübingen, Germany, ²Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ³Department of Medical Imaging, University of Toronto, Toronto, ON, Canada, ⁴Pediatrics Rheumatology, CHU Bicêtre, Le Kremlin Bicêtre, France, ⁵Bldg10 rooom 6D47-B, NIH | NIAMS, Bethesda, MD, ⁶UK National Amyloidosis Centre, University College London Medical School, London, United Kingdom, ⁷Med 5-Rheumatology, University of Heidelberg, Heidelberg, Germany, ⁸University of California at San Diego, San Diego, CA, ⁹Rheumatology, Pediatrics, Universitaetskinderklinik Hamburg, Hamburg, Germany, ¹⁰Pediatric Rheumatology, German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen, Germany, ¹¹Charite, University Medicine Berlin, Berlin, Germany, ¹²Pediatry, G. Gaslini Institute, Genova, Italy, ¹³Department of Internal Medicine, Rheumatology Division, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ¹⁴Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ¹⁵University Hospital Tuebingen, Tuebingen, Germany, ¹⁶Division of Immunology, Boston Children's Hospital, Boston, MA, ¹⁷Rheumatology, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada
Background/Purpose: Cryopyrin Associated Periodic Syndromes (CAPS) are a rare, clinically heterogeneous group of devastating inflammatory illnesses. NLRP3gene gain-of function mutations result in unceasingly raised IL1…
Abstract Number: 3094 • 2015 ACR/ARHP Annual Meeting
Dose Adjustment of Anakinra (Kineret®) Based on Clinical Response in Patients with Severe Cryopyrin-Associated Periodic Syndromes
Bengt Hallen¹, Torbjörn Kullenberg¹, Mika Leinonen², Margareta Wiken¹, Raphaela Goldbach-Mansky³ and Hans Olivecrona¹, ¹Swedish Orphan Biovitrum, Stockholm, Sweden, ²4Pharma AB, Stockholm, Sweden, ³Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD
Background/Purpose: Cryopyrin-Associated Periodic Syndromes (CAPS) include a group of rare inherited autoinflammatory diseases consisting of Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome and the most…

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