Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 2279 • 2018 ACR/ARHP Annual Meeting
Therapeutic Value of Canakinumab in Patients with Yao Syndrome
Qingping Yao, Rheumatology, Allergy and Immunology, Stony Brook University Hospital, Stony Brook, NY; Rheumatology, Allergy, and Immunology, Stony Brook University School of Medicine, Stony Brook, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321), formerly termed nucleotide-binding, oligomerization domain 2(NOD2)-associated autoinflammatory disease, is characterized by periodic fever, dermatitis, arthritis, and swelling of the…
Abstract Number: 942 • 2017 ACR/ARHP Annual Meeting
Role of the Pyrin Inflammasome in Resistance to Yersinia Pestis: A Possible Selective Advantage for Carriers of MEFV Mutations
Yong Hwan Park¹, Wonyong Lee¹, Lawton Chung², James Bliska², Daniel L. Kastner¹ and Jae Jin Chae³, ¹Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²Department of Molecular Genetics and Microbiology, School of Medicine, Stony Brook University, Stony Brook, NY, ³Inflammatory disease section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
Background/Purpose: Mutations in MEFV, encoding pyrin, cause the prototypic autoinflammatory disease, familial Mediterranean fever (FMF). The carrier frequency of FMF-associated MEFV mutations is extraordinarily high…
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: 1154 • 2017 ACR/ARHP Annual Meeting
Use of Including Serum Ferritin and Heme Oxygenase 1 in the Yamaguchi’s Classification for Adult-Onset Still’s Disease: A Multicenter Retrospective Study
Yohei Kirino¹, Yasushi Kawaguchi², Yoshifumi Tada³, Hiroshi Tsukamoto⁴, Toshiyuki Ota⁵, Masahiro Iwamoto⁶, Hiroki Takahashi⁷, Kohei Nagasawa⁸, Syuji Takei⁹, Takahiko Horiuchi¹⁰, Hisae Ichida², Seiji Minota¹¹, Atsuhisa Ueda¹, Akihide Ohta¹² and Yoshiaki Ishigatsubo¹³, ¹Department of Stem Cell and Immune Regulation, 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 medicine and biosystemic science, Kyushu University Hospital, Fukuoka, Japan, ⁵Department of Rheumatology, Iizuka Hospital, Iizuka, Japan, ⁶Deivision of Rheumatology and Clinical Immunology, Jichi Medical University, Shimotsuke, Japan, ⁷Department of Gastroenterology, Rheumatology and Clinical Immunology, Sapporo Medical University School of Medicine, Sapporo, Japan, ⁸Rheumatic Disease Center, Sawara Hospital, Sawara, Japan, ⁹Pediatrics of Developmental Medicine, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan, ¹⁰Department of Internal Medicine, Kyushu University Beppu Hospital, Beppu, Japan, ¹¹Department of Internal Medicine, Division of Rheumatology/Clinical Immunology, Jichi Medical University, Shimotsuke, Japan, ¹²Saga University School of Medicine, Saga, Japan, ¹³Yokohama City University, Yokohama, 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…
Abstract Number: 1892 • 2017 ACR/ARHP Annual Meeting
A20 Haploinsufficiency: Clinical Phenotypes and Disease Course of Patients with This Newly Recognized Autoinflammatory Disease
Florence A. Aeschlimann¹, Ezgi Deniz Batu², Ellen Go³, Ahmet Gül⁴, Patrycja M. Hoffmann⁵, Helen L. Leavis⁶, Seza Ozen⁷, Annet van Royen-Kerkof⁶, Daniella Schwartz⁸, Deborah L. Stone⁹, Ivona Aksentijevich¹⁰, Daniel L. Kastner¹¹ and Ronald Laxer¹, ¹Rheumatology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ²Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ³Pediatrics, Indiana University School of Medicine, Indianapolis, IN, ⁴Department of Internal Medicine, Division of Rheumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ⁵Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ⁶Pediatric Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ⁷Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ⁸NIAMS - Rheumatology, National Institutes of Health, Bethesda, MD, ⁹Inflammatory Disease Section, NHGRI/NIH, Bethesda, MD, ¹⁰National Human Genome Research Institute, National Institutes of Health, Inflammatory Disease Section, Bethesda, MD, ¹¹Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
Background/Purpose: Haploinsufficiency of A20 (HA20) is a newly discovered autoinflammatory disease caused by mutations in TNFAIP3. A20 is a protein with a crucial role in…
Abstract Number: 1893 • 2017 ACR/ARHP Annual Meeting
Pharmacokinetics (PK), Pharmacodynamics (PD), and Proposed Dosing of Oral Janus Kinase (JAK)1 and JAK2 Inhibitor Baricitinib in Patients with IFN-Mediated Autoinflammatory Diseases (AIDs)
Hanna Kim¹, Kristina M. Brooks², Paul Wakim³, Mary Blake⁴, Stephen R. Brooks⁵, Gina A. Montealegre Sanchez⁶, Adriana Almeida de Jesus⁶, Yan Huang⁶, Wanxia Li Tsai⁷, Massimo G. Gadina⁴, Parag Kumar² and Raphaela Goldbach-Mansky⁶, ¹Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, ²Clinical Pharmacokinetics Research Unit, Pharmacy Department, NIH Clinical Center, Bethesda, MD, ³Biostatistics and Clinical Epidemiology Service, NIH Clinical Center, Bethesda, MD, ⁴Translational Immunology Section, Office of Science and Technology, NIAMS/NIH, Bethesda, MD, ⁵Biodata Mining and Discovery Section, Office of Science and Technology, NIAMS/NIH, Bethesda, MD, ⁶Translational Autoinflammatory Disease Studies (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ⁷Translational Immunology, Office of Science and Technology, NIAMS/NIH, Bethesda, MD
Background/Purpose: JAK inhibitors reduce IFN-signaling ex vivo. We evaluated the PK and PD of the oral JAK1 and JAK2 inhibitor, baricitinib, from data collected in…
Abstract Number: 2349 • 2017 ACR/ARHP Annual Meeting
Interferon Signature in Childhood Rheumatic Diseases
Hafize Emine Sonmez¹, İ. Çağatay Karaaslan², Ezgi Deniz Batu³, Banu Anlar⁴, Betul Sozeri⁵, Adriana Almeida de Jesus⁶, Raphaela Goldbach-Mansky⁷ and Seza Ozen⁸, ¹Department of Pediatrics, Divison of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ²Department of Molecular Biology, Hacettepe University, Ankara, Turkey, ³Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ⁴Department of Pediatrics, Division of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ⁵Pediatric Rheumatology, Ümraniye Tranning and Research Hospital, İstanbul, Turkey, ⁶National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ⁷Translational Autoinflammatory Disease Studies (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ⁸Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey
Background/Purpose: Several rheumatic diseases are characterized by overexpression of type I interferon(IFN)-inducible or viral response genes, termed the IFN signature. Recently this signature has been…
Abstract Number: 2758 • 2017 ACR/ARHP Annual Meeting
Response to JAK1/2 Inhibition with Baricitinib in “Candle”, “Savi” and “Candle-like” Diseases. a New Therapeutic Approach for Type I IFN-Mediated Autoinflammatory Diseases
Gina A. Montealegre Sanchez¹, Adam Reinhardt², Suzanne Ramsey³, Helmut Wittkowski⁴, Philip J Hashkes⁵, Sara Murias⁶, Yackov Berkun⁷, Susanne Schalm⁸, Jason A Dare⁹, Diane Brown¹⁰, Deborah L. Stone¹¹, Ling Gao⁹, Thomas L. Klausmeier¹², John D. Carter¹³, Robert Colbert¹⁴, Dawn C. Chapelle¹⁵, Hanna Kim¹⁵, Samantha Dill¹⁵, Adriana Almeida de Jesus¹, Paul Wakim¹⁶, A. Zlotogorski¹⁷, Seza Ozen¹⁸, Paul Brogan¹⁹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Studies (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Faculty of Physicians of the University of Nebraska Medical Center, College of Medicine, Nebraska, NE, ³Pediatric Rheumatology, IWK Health Centre, Dalhousie University, Halifax, NS, Canada, ⁴Department of Pediatric Rheumatology and Immunology, University of Muenster, Muenster, Germany, ⁵Pediatrics Rheumatology; Shaare Zedek Medical Center, Jerusalem, Israel, ⁶Hospital Infantil La Paz, Madrid, Spain, ⁷Hadassah-Hebrew University Medical Center, Jerusalem, Israel, ⁸Hauner Children's Hospital LMU, Munich, Germany, ⁹University of Arkansas for Medical Sciences, Little Rock, AR, ¹⁰Division Of Rheumatology MS #60, Children's Hospital Los Angeles, Los Angeles, CA, ¹¹NHGRI/NIH, Bethesda, MD, ¹²Riley Hospital for Children, Indianapolis, IN, ¹³Division of Rheumatology, University of South Florida, Tampa, FL, ¹⁴NIAMS/NIH, Bethesda, MD, ¹⁵Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, ¹⁶Biostatistics and Clinical Epidemiology Service, NIH Clinical Center, Bethesda, MD, ¹⁷Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel, ¹⁸Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁹UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom
Background/Purpose: Monogenic autoinflammatory interferonopathies, including chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) and STING-associated vasculopathy with onset in infancy (SAVI), present with…
Abstract Number: 2773 • 2017 ACR/ARHP Annual Meeting
Severe Juvenile Arthritis Associated with a De Novo Gain-of-Function Germline Mutation in MYD88
Keith A. Sikora¹, Joshua R. Bennett², Laurens Vyncke³, Zuoming Deng⁴, Wanxia Li Tsai², Ewald Pauwels⁵, Gerlinde Layh-Schmitt², April D. Brundidge², Fatemeh Navid², Kristien Zaal⁶, Eric Hanson², Massimo G. Gadina⁷, Louis M. Staudt⁸, Thomas A. Griffin⁹, Jan Tavernier³, Frank Peelman³ and Robert Colbert², ¹Pediatric Translational Research Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ³Department of Biochemistry, Ghent University, Ghent, Belgium, ⁴Biodata Mining & Discovery, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁵Center for Molecular Modeling, Ghent University, Ghent, Belgium, ⁶Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁷Translational Immunology, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁸National Cancer Institute, National Institutes of Health, Bethesda, MD, ⁹Levine Children’s Hospital at Carolinas Medical Center, Charlotte, NC
Background/Purpose: Using whole exome sequencing, we discovered a de novo heterozygous germline mutation in MYD88 (myeloid differentiation primary response 88) (c.666T>G, p.S222R) in a child…
Abstract Number: 169 • 2017 ACR/ARHP Annual Meeting
New Autoinflammatory Phenotype Associated with Homozygous AGBL3 Variant
Ahmet Gül¹, Neslihan Abaci² and Sema Sirma Ekmekci², ¹Department of Internal Medicine, Division of Rheumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ²Department of Genetics, Istanbul University Institute for Experimental Medical Research, Istanbul, Turkey
Background/Purpose: To identify new genes/pathways associated with autoinflammatory phenotype. Methods: We screened genomic variations by whole exome sequencing in 3 families presented with autoinflammatory findings…
Abstract Number: 290 • 2017 ACR/ARHP Annual Meeting
Characterization of Neutrophil Subsets and Neutrophil Extracellular Traps in Pyogenic Arthritis, Pyoderma Gangrenosum and Acne (PAPA) Syndrome
Pragnesh Mistry¹, Carmelo Carmona-Rivera¹, Nickie Seto¹, Monica Purmalek¹, Amanda Ombrello², Ivona Aksentijevich², Daniel L. Kastner² and Mariana J. Kaplan¹, ¹Systemic Autoimmunity Branch, NIAMS/NIH, Bethesda, MD, ²Inflammatory Disease Section, NHGRI/NIH, Bethesda, MD
Background/Purpose: Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is an autosomal dominant autoinflammatory disorder caused by mutations in the PSTPIP1/CD2BP1 gene. PAPA syndrome is…
Abstract Number: 361 • 2017 ACR/ARHP Annual Meeting
Multi-National Observational Patient Diary Study to Assess Disease Burden of Periodic Fever Syndromes (PFS), Including Colchicine-Resistant Familial Mediterranean Fever (crFMF), TNF-Receptor Associated Periodic Syndrome (TRAPS) and Mevalonate Kinase Deficiency (MKD)
Jasmin B. Kuemmerle-Deschner¹, Pierre Quartier², Shai Padeh³, Isabelle Koné-Paut⁴, Veronique Hentgen⁵, Katherine A. Marzan⁶, Fatma Dedeoglu⁷, Helen J. Lachmann⁸, Tilmann Kallinich⁹, Norbert Blank¹⁰, Seza Ozen¹¹, Yelda Bilginer¹², Jonathan S. Hausmann^7,13, Arturo Diaz¹³, Ravi Degun¹⁴, Nina Marinsek¹⁴, Jill Gregson¹⁵, Kathleen G. Lomax¹⁶ and Avi Livneh¹⁷, ¹Pediatrics, University Hospital Tübingen, Tübingen, Germany, ²Necker-Enfants Malades Hospital, Paris, France, ³Sheba Medical Center, Tel-Hashomer, Israel, ⁴Bicêtre Hospital, APHP, Univeristy Paris Sud, Paris, France, ⁵Versailles Hospital, CEREMAI, Le Chesnay, France, ⁶Division of Rheumatology, Children's Hospital Los Angeles, Los Angeles, CA, ⁷Boston Children's Hospital, Boston, MA, ⁸UCL Division of Medicine, UK National Amyloidosis Centre, London, United Kingdom, ⁹Charité, Humbolt University Medicine Berlin, Berlin, Germany, ¹⁰UniversitätsKlinikum Heidelberg, Heidelberg, Germany, ¹¹Department of Pediatrics, Hacettepe University, Ankara, Turkey, ¹²Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, ANKARA, Turkey, ¹³Beth Israel Deaconess Medical Center, Boston, MA, ¹⁴Life Sciences, Navigant Consulting, London, United Kingdom, ¹⁵Novartis Pharma AG, Basel, Switzerland, ¹⁶Novartis Pharmaceuticals Corporation, East Hanover, NJ, ¹⁷Sheba Medical Center, Ramat-Gan, Israel
Background/Purpose: Periodic fever syndromes (PFS) are a group of autoinflammatory disorders characterized by recurrent bouts of fever and severe localized inflammation which, if not treated,…
Abstract Number: 367 • 2017 ACR/ARHP Annual Meeting
Interleukin-1 Receptor Antagonist Is a Potential Treatment for Undifferentiated Autoinflammatory Syndromes
Ananta Subedi¹, Daniella Schwartz², Karyl Barron³, Daniel L. Kastner⁴ and Amanda Ombrello⁵, ¹National Institute of Arthritis, Musculoskeletal and Skin Disease (NIAMS), Bethesda, MD, ²NIAMS - Rheumatology, National Institutes of Health, Bethesda, MD, ³National Institutes of Health, Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ⁴Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵Inflammatory Disease Section, NHGRI/NIH, Bethesda, MD
Background/Purpose: The autoinflammatory diseases (AIDs) are a group of disorders of the innate immune system characterized by seemingly unprovoked inflammation1. A variety of genetic alterations…
Abstract Number: 379 • 2017 ACR/ARHP Annual Meeting
H Syndrome: Five New Cases from the United States with Novel Features and Responses to Therapy
Jessica Bloom¹, Clara Lin², Lisa F. Imundo³, Stephen Guthery⁴, Shelly Stepenaskie⁵, Csaba Galambos⁶, Amy Lowichik⁷ and John F. Bohnsack⁸, ¹Pediatrics, Children's Hospital Colorado, Aurora, CO, ²Pediatric Rheumatology, Children's Hospital Colorado, Aurora, CO, ³Pediatrics, Columbia University Medical Center, New York, NY, ⁴Department of Pediatrics,, University of Utah, Salt Lake City, UT, ⁵Pathology and Dermatology, University of New Mexico, Albuquerque, NM, ⁶Pathology, Children's Hospital Colorado, Aurora, CO, ⁷Pathology, University of Utah, Salt Lake City, UT, ⁸Division of Allergy, Immunology and Pediatric Rheumatology, University of Utah, Salt Lake City, UT
Background/Purpose: H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations. The syndrome is caused by mutations…
Abstract Number: 142 • 2017 Pediatric Rheumatology Symposium
Neutrophils and monocytes in the early inflammatory cascade of systemic onset Juvenile Idiopathic Arthritis
Nienke M. ter Haar¹, Wilco de Jager², Rianne C. Scholman¹, Jenny Meerding¹, Bas Vastert^3,4 and Sytze de Roock⁴, ¹Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ²Dept Immunology, UMC Utrecht, Utrecht, Netherlands, ³Division of Pediatric Rheumatology, University Medical Center Utrecht, Utrecht, Netherlands, ⁴Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose: Systemic onset Juvenile Idiopathic Artritis (sJIA) is an acquired systemic autoinflammatory disease characterized by spiking fever, arthritis and skin rash. Patients display high inflammatory…

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