Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 1987 • 2016 ACR/ARHP Annual Meeting
Recessive Coding and Regulatory Mutations in FBLIM1 Underlie the Pathogenesis of Sterile Osteomyelitis
Allison Cox¹, Benjamin W Darbro², Ronald Laxer³, Xinyu Bing⁴, Alexis Finer⁵, Albert Erives⁶, Vinit Mahajan⁷, Alexander G Bassuk¹ and Polly Ferguson⁸, ¹Pediatrics and Interdisciplinary Graduate Program in Genetics, University of Iowa Carver College of Medicine, Iowa City, IA, ²Department of Pediatrics and Interdisciplinary Graduate Program in Genetics, University of Iowa Carver College of Medicine, Iowa City, IA, ³Div of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ⁴Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, ⁵Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, ⁶Biology and Interdisciplinary Graduate Program in Genetics, University of Iowa Carver College of Medicine, Iowa City, IA, ⁷Department of Ophthalmology and Visual Sciences,, University of Iowa Carver College of Medicine, Iowa City, IA, ⁸Department of Pediatrics--Rheumatology, University of Iowa Carver College of Medicine, Iowa City, IA
Background/Purpose: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by…
Abstract Number: 2256 • 2016 ACR/ARHP Annual Meeting
Histopathologic Features and Tissue Interferon-Response Gene Scoring of Lesional Skin Samples for Diagnosis in Autoinflammatory Disorders
Kyawt W. Shwin^1,2, Chyi-Chia Richard Lee³, Adriana Almeida de Jesus⁴, Carmelo Carmona-Rivera⁵, Louise Malle⁴, Yanfeng Hou⁶, Gina A. Montealegre Sanchez⁴, Edward Cowen⁷ and Raphaela Goldbach-Mansky⁸, ¹Translational Autoinflammatory Diseases Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³Dermatopathology Section, Laboratory of Pathology, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, ⁴National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ⁵Systemic Autoimmunity Branch/ NIAMS, National Institutes of Health, Bethesda, MD, ⁶Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ⁷Dermatology Branch, National Cancer Institute (NCI), National Institutes of Health, Bethesda, MD, ⁸Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD
Background/Purpose: Many genetically defined autoinflammatory diseases (AID) are caused by innate immune dysregulation and present with “neutrophilic dermatoses”. This study systematically assesses immune-cell infiltrates, and…
Abstract Number: 2381 • 2016 ACR/ARHP Annual Meeting
Canakinumab Monotherapy for the Treatment of Majeed Syndrome. Five-Year Experience
Mia Glerup¹, Bente Fiirgaard², Christian Høst³, Polly Ferguson⁴ and Troels Herlin⁵, ¹Pediatric Rheumatology Clinic, Department of Pediatrics, Dept. of Pediatrics, Aarhus University Hospital, Aarhus, Denmark, ²MR Research Centre, Aarhus University Hospital, Aarhus N, Denmark, ³Dept. of Pediatrics, Aarhus University Hospital, Aarhus, Denmark, ⁴Department of Pediatrics--Rheumatology, University of Iowa Carver College of Medicine, Iowa City, IA, ⁵Pediatric Rheumatology Clinic, Department of Pediatrics, Aarhus University Hospital, Aarhus N, Denmark
Background/Purpose: Majeed syndrome is a rare, autosomal recessive disorder that presents with early onset chronic recurrent multifocal osteomyelitis (CRMO) and microcytic congenital dyserythropoietic anaemia caused…
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…
Abstract Number: 112 • 2015 ACR/ARHP Annual Meeting
The Molecular Genetic Analysis of the Autoinflammatory Syndromes in Russian Patients with Manifestation of Systemic Juvenile Idiopathic Arthritis
Ekaterina Alexeeva¹, Alexander Baranov², Kirill Savostyanov², Alexander Pushkov², Tatyana Sleptsova¹, Tatyana Bzarova¹, Saniya Valieva¹, Rina Denisova¹, Kseniya Isayeva¹, Evgeniya Chistyakova¹ and Chomahidze Alexandra¹, ¹Rheumatology, Scientific Center of Children's Health, Moscow, Russia, ²Scientific Center of Children's Health, Moscow, Russia
Background/Purpose: Group of monogenic autoinflammatory syndromes is characterized by recurrent episodes of fever and inflammation. Methods: The study included 90 pts (37 boys, 63 girls)…
Abstract Number: 246 • 2015 ACR/ARHP Annual Meeting
Adult Autoinflammatory Disease Frequency and Our Diagnostic Experience in an Adult Autoinflammatory Clinic
Qingping Yao¹, Felicitas Lacbawan² and Jianbo Li¹, ¹Cleveland Clinic, Cleveland, OH, ²Molecular Genetics Pathology, Cleveland Clinic, Cleveland, OH
Background/Purpose: Autoinflammatory diseases (AIDs), aka, periodic fever syndromes include monogenic diseases, such as familial Mediterranean fever (FMF), cryopyrin-associated periodic disease (CAPS), tumor necrosis factor receptor-associated…
Abstract Number: 248 • 2015 ACR/ARHP Annual Meeting
Efficacy and Safety of Canakinumab in Patients with CAPS Aged <24 Months: Results from an Open-Label, Multicenter, Phase III Trial
Paul Brogan¹, Michaël Hofer², Jasmin B. Kuemmerle-Deschner³, Bernard R. Lauwerys⁴, Antonio Speziale⁵, K. Abrams⁶, Karolynn Leon⁷, Xiaoling Wei⁸ and Ronald Laxer⁹, ¹Department of Paediatric Rheumatology, UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ²Unité Romande de Rhumatologie Pédiatrique, Hospitalier Universitaire Vaudois, Lausanne, Switzerland, ³University Hospital Tuebingen, Tuebingen, Germany, ⁴Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium, ⁵Novartis Pharma AG, Basel, Switzerland, ⁶Novartis Pharmaceutical Corporation, East Hanover, NJ, ⁷Novartis Pharmaceuticals Corporation, East Hanover, NJ, ⁸Novartis Pharma, Beijing, NU, China, ⁹University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Canakinumab (CAN) is indicated for the treatment of cryopyrin-associated periodic syndrome (CAPS) in patients aged ≥2 years.1,2 However, the efficacy of CAN has not…
Abstract Number: 250 • 2015 ACR/ARHP Annual Meeting
Postvaccination Antibody Titer Data in CAPS Patients Aged 28 Days to 4 Years Treated with Canakinumab: Results of an Open-Label Phase 3 Trial
Paul Brogan¹, Michaël Hofer², Jasmin B. Kuemmerle-Deschner³, Bernard R. Lauwerys⁴, Antonio Speziale⁵, Ken Abrams⁶, Karolynn Leon⁶, Xiaoling Wei⁷ and Ronald Laxer⁸, ¹Department of Paediatric Rheumatology, UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ²Unité Romande de Rhumatologie Pédiatrique, Hospitalier Universitaire Vaudois, Lausanne, Switzerland, ³University Hospital Tuebingen, Tuebingen, Germany, ⁴Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium, ⁵Novartis Pharma AG, Basel, Switzerland, ⁶Novartis Pharmaceuticals Corporation, East Hanover, NJ, ⁷Novartis Pharma, Beijing, NU, China, ⁸University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Patients with autoinflammatory diseases treated with immunosuppressive agents reportedly experience an increased risk of serious infections.1 Therefore, these patients are likely candidates for vaccinations,…

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