Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 772 • 2019 ACR/ARP Annual Meeting
The Study of the Novel G87V Mutation in the TNFRSF1A Gene Identified in a Family with TNF Receptor-Associated Periodic Syndrome (TRAPS)
Shoko Tsuji¹, Hidenori Matsuzaki ², Masanori Iseki ³, Akiko Nagasu ¹, Hiroyasu Hirano ¹, Katsuhiko Ishihara ⁴, Naoyasu Ueda ⁵, Yoshitaka Honda ⁶, Takahiko Horiuchi ⁷, Ryuta Nishikomori ⁸, Yoshitaka Morita ¹ and Tomoyuki Mukai ⁹, ¹Department of Rheumatology, Kawasaki Medical School, Kurashiki, Okayama, Japan, ²Department of Life Sciences, Faculty of Life and Environmental Sciences, Prefectural University of Hiroshima, shobara, Hiroshima, Japan, ³Department of Immunology and Molecular Genetics, Kawasaki Medical School, Kurashiki, Okayama, Japan, ⁴Department of Immunology and Molecular Genetics, Kurashiki, Okayama, Japan, ⁵Department of Internal Medicine, Miyazaki Prefectural Miyazaki Hospital, Miyazaki, Japan, ⁶Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan, ⁷Department of Internal Medicine, Kyushu University Beppu Hospital, Beppu, Japan, Beppu, Japan, ⁸Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan, ⁹Department of Rheumatology, Kawasaki medical School, Kurashiki, Okayama, Okayama, Japan
Background/Purpose: TNF Receptor-Associated Periodic Syndrome (TRAPS) is one of the autoinflammatory diseases. TRAPS is caused by heterozygous mutations in the TNFRSF1A gene. Although more than…
Abstract Number: 799 • 2019 ACR/ARP Annual Meeting
Application of the Autoinflammatory Disease Activity Index (ADDI) to a Cohort of Patients in a Tertiary Hospital
Mireia Lopez-corbeto¹ and Estefania Moreno Ruzafa ¹, ¹Hospital Universitari Vall d'Hebron, Barcelona, Spain
Background/Purpose: Autoinflammatory diseases (AIDs) cause chronic systemic inflammation that can damage multiple organs. Recently, the ADDI index has been developed and validated in the four…
Abstract Number: 810 • 2019 ACR/ARP Annual Meeting
Small Vessel Vasculitis Syndrome with Autoinflammation Caused by De Novo Mutations in LYN Kinase
Adriana de Jesus¹, Gina Montealegre Sanchez ², Helen Freeman ³, Neil Martin ⁴, Ebun Omoyinmi ⁵, Katherine Calvo ⁶, Richard Chyi-chia Lee ⁷, Murray Passo ⁸, Natasha Ruth ⁸, David Kleiner ⁷, Yan Huang ⁹, Nirali Shah ¹⁰, Paul Brogan ¹¹, SuJin Hwang ¹², HyeSun Kuehn ¹², Sergio Rosenzweig ¹², Zuoming Deng ¹³, Anna Huttenlocher ¹⁴, Susan Moir ¹⁵, Douglas Kuhns ¹⁶ and Raphaela Goldbach-Mansky ¹⁷, ¹Translation Autoinflammatory Diseases Section/NIAID/NIH, Silver Spring, MD, ²Translational Autoinflammatory Disease Section/NIAID/NIH, Bethesda, ³Raigmore Hospital, Inverness, United Kingdom, ⁴Royal Hospital for Children, Glasgow, United Kingdom, ⁵University College London Institute of Child Health, London, United Kingdom, ⁶Hematology Service/Department of Laboratory Medicine/NIH, Bethesda, MD, ⁷Laboratory of Pathology/NCI/NIH, Bethesda, MD, ⁸Medical University of South Carolina, Charleston, SC, ⁹Translational Autoinflammatory Disease Section/NIAID/NIH, Bethesda, MD, ¹⁰Pediatric Oncology Branch/NCI/NIH, Bethesda, MD, ¹¹Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, ¹²Immunology Service/Department of Laboratory Medicine/NIH, Bethesda, MD, ¹³Biomining and Discovery Section/NIAMS/NIH, Bethesda, MD, ¹⁴Department of Pediatrics/University of Wisconsin, Madison, WI, ¹⁵Immunopathogenesis Section/NIAID/NIH, Bethesda, MD, ¹⁶Collaborative Clinical Research Branch/NIAID/NIH, Bethesda, MD, ¹⁷Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD
Background/Purpose: Lyn kinase is a member of the Src family of non-receptor tyrosine-protein kinases that modifies signals from various cell surface receptors and regulates innate…
Abstract Number: 903 • 2019 ACR/ARP Annual Meeting
Prevalence of Atopic Features in Classic Autoinflammatory Diseases
Brian Dizon¹, Hirsch komarow ¹, Deborah Stone ¹, Patrycja Hoffmann ¹, Anne Jones ¹, Tina Romeo ¹, Karyl Barron ¹, Ivona Aksentijevich ², Daniel Kastner ¹, Amanda Ombrello ¹, Joshua Milner ¹ and Daniella Schwartz ¹, ¹National Institutes of Health, Bethesda, MD, ²National Institutes of Health, Bethesda
Background/Purpose: Autoinflammatory diseases (AIDs), often caused by single gene mutations, are disorders in which aberrant activation of innate immune cells causes uncontrolled systemic inflammation. Because…
Abstract Number: 947 • 2019 ACR/ARP Annual Meeting
TNF Inhibitor Treatment and Dramatic Stroke Risk Reduction in Patients with Deficiency of Adenosine Deaminase 2
Ryan Laird¹, Patrycja Hoffmann ², Karyl Barron ², Deborah Stone ², Michele Nehrebecky ³, Anne Jones ², Tina Romeo ², Camilo Toro ³, Arianne Soldatos ⁴, Cornelia Cudrici ³, Daniel Kastner ² and Amanda Ombrello ², ¹National Institues of Health, Bethesda, ²National Institutes of Health, Bethesda, MD, ³National Institutes of Health, Bethesda, ⁴NIH/NINDS, Bethesda
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease caused by biallelic loss-of-function mutations in the ADA2 gene . Over 60 pathogenic…
Abstract Number: 1244 • 2019 ACR/ARP Annual Meeting
Tocilizumab – An Effective Rescue Therapy for Refractory Unclassified Autoinflammatory Diseases in Children
Jasmin B. Kuemmerle-Deschner¹, Daniel Sturm ¹ and Susanne Benseler ², ¹University Hospital Tuebingen, Tuebingen, Germany, ²Alberta Childrens Hospital Research Institute, Calgary, Canada
Background/Purpose: Evidence based treatment options for children and adults with unclassified autoinflammatory diseases (AID) are limited. Frequently, IL-1-inhibition is primarily tried to control the severe…
Abstract Number: 926 • 2018 ACR/ARHP Annual Meeting
Truncating Mutations in SAMD9L Cause an Early-Onset Immune-Dysregulatory Syndrome of Neutrophilic Panniculitis, Interstitial Lung Disease and Cytopenias
Adriana Almeida de Jesus¹, Bernadette Marrero¹, Gina A. Montealegre Sanchez¹, Jon (Sandy) Burnham², Alice Chan³, Yuriy Stepanovskiy⁴, Angela Rösen-Wolff⁵, Christian Hedrich⁶, MinAe Lee-Kirsch⁵, Joseph A. Duncan⁷, Jin Yao Mo⁷, Liliana Bezrodnik⁸, Gisela Seminario⁸, Maria Soledad Caldirola⁸, Eric Allenspach⁹, Troy R. Torgerson¹⁰, Laura Finn¹¹, Rachel VanTries¹, Yan Huang¹, Stephen R. Brooks¹², Zuoming Deng¹³ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Pediatric Rheumatology, Children's Hospital of Philadelphia, Philadelphia, PA, ³Pediatrics, UCSF, San Francisco, CA, ⁴Shupyk National Academy of Postgraduate Education, Kyiv, Ukraine, ⁵Children's Hospital Dresden, Dresden, Germany, ⁶Pediatric Rheumatology and Immunology, Children's Hospital Dresden, Dresden, Germany, ⁷University of North Carolina School of Medicine, Chapel Hill, NC, ⁸Center of Clinical Immunology, Buenos Aires, Argentina, ⁹Immunology/Rheumatology, Seattle Children's Research Institute, Seattle, WA, ¹⁰Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, ¹¹University of Washington and Seattle Children's Hospital, Seattle, WA, ¹²Biodata Mining and Discovery Section, Office of Science and Technology, NIAMS/NIH, Bethesda, MD, ¹³NIAMS/NIH, Bethesda, MD
Background/Purpose: The Sterile Alpha Motif Domain Containing 9 Like protein that is encoded by SAMD9L plays a role in endosome fusion, and deletions (haploinsufficiency) of…
Abstract Number: 1321 • 2018 ACR/ARHP Annual Meeting
Clinical and Genetic Analysis of the Patients Mimicking Familial Mediterranean Fever
Dai Kishida¹, Yasuhiro Shimojima² and Yoshiki Sekijima¹, ¹Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan, ²Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan
Clinical and genetic analysis of the patients mimicking familial Mediterranean feverBackground/Purpose: Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by recurrent episodes of fever…
Abstract Number: 1412 • 2018 ACR/ARHP Annual Meeting
A Systematic Literature Review of Efficacy and Safety of Current Therapies for the Treatment of Hyperimmunoglobulinemia D Syndrome and TNF Receptor-Associated Periodic Syndrome
Jasmin B. Kuemmerle-Deschner¹, Raju Gautam², Aneesh Thomas George², Syed Raza², Kathleen Graham Lomax³ and Peter Hur³, ¹Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital, Tuebingen, Germany, Tuebingen, Germany, ²Novartis Healthcare Pvt. Ltd., Hyderabad, India, Hyderabad, India, ³Novartis Pharmaceuticals Corporation, East Hanover, New Jersey, USA, East Hanover, NJ
Background/Purpose: Hyperimmunoglobulinemia D syndrome (HIDS), also known as mevalonate kinase deficiency (MKD), and TNF receptor-associated periodic syndrome (TRAPS) are rare auto-inflammatory diseases grouped as periodic…
Abstract Number: 1415 • 2018 ACR/ARHP Annual Meeting
Emapalumab, an Anti-Interferon Gamma Monoclonal Antibody in Two Patients with NLRC4-Related Disease and Severe Hemophagocytic Lymphohistiocytosis (HLH)
Claudia Bracaglia¹, Giusi Prencipe¹, Antonella Insalaco¹, Ivan Caiello², Giulia Marucci¹, Raffaele Pecoraro³, Manuela Pardeo¹, Pavla Dolezalova⁴, Sarka Fingerhutova⁴, Maria Ballabio⁵, Cristina de Min⁵ and Fabrizio De Benedetti⁶, ¹Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ²Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy, ³Pediatric Department, La Sapienza University of Rome, Rome, Italy, ⁴Paediatric Rheumatology Unit, General University Hospital in Prague and 1st Faculty of Medicine, Charles University, General University Hospital in Prague and 1st Faculty of Medicine, Prague, Czech Republic, ⁵NovImmune S.A., Geneva, Switzerland, ⁶IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy
Background/Purpose: Interferon gamma (IFNγ) plays a pathogenic role in primary and secondary HLH. An ongoing phase 2/3 trial with emapalumab in primary HLH provides encouraging…
Abstract Number: 1426 • 2018 ACR/ARHP Annual Meeting
The Utilization of S100 Proteins Testing in Pediatric Rheumatology Patients in a Tertiary Care Institution and Implications for Care
Najla Aljaberi¹, Angela Merritt², Alexei Grom¹, Grant Schulert³, Jennifer L. Huggins⁴, Michael Henrickson⁵ and Hermine I. Brunner¹, ¹Pediatric Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ²Pediatric Rheumatology, Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Rheumatology, Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ⁴Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ⁵Cincinnati Children’s Medical Center, Cincinnati, OH
Background/Purpose: S100 proteins are calcium-binding proteins of increasing value as biomarkers in various inflammatory conditions (e.g. autoinflammatory diseases, vasculitides, inflammatory bowel disease). The two highly…
Abstract Number: 1911 • 2018 ACR/ARHP Annual Meeting
The Expanding Clinical Spectrum of Patients with Deficiency of Adenosine Deaminase 2 (DADA2)
Karyl Barron¹, Amanda Ombrello², Deborah Stone², Patrycja M. Hoffmann², Tina Romeo², Anne Jones³, Natalia Sampaio Moura², Oskar Schnappauf², Ivona Aksentijevich³, Jenna Bergerson¹, Ariane Soldatos⁴, Camilo Toro³, Theo Heller⁵, Jennifer Kanakry⁶, Katherine R Calvo⁷ and Daniel Kastner³, ¹National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ²NHGRI, National Institutes of Health, Bethesda, MD, ³National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁴NINDS, National Institutes of Health, Bethesda, MD, ⁵NIDDK, National Institutes of Health, Bethesda, MD, ⁶NCI, National Institutes of Health, Bethesda, MD, ⁷CC/DLM, National Institutes of Health, Bethesda, MD
Background/Purpose: The deficiency of adenosine deaminase 2 (DADA2) was initially described in 2014 in 2 reports: one emphasizing early-onset lacunar strokes, livedoid rash and intermittent…
Abstract Number: 2023 • 2018 ACR/ARHP Annual Meeting
Different Patterns of Interferon-Response-Gene Expression May Elucidate Different Pathomechanisms That Drive IFN-Response-Gene Activation in Patients with Presumed IFN-Mediated Autoinflammatory Diseases
Adriana Almeida de Jesus¹, Yanfeng Hou², Louise Malle³, Scott Canna⁴, Gina A. Montealegre Sanchez¹, Hanna Kim⁵, Rachel VanTries¹, Seza Ozen⁶, Samantha Dill⁷, Dawn C. Chapelle⁷, Bernadette Marrero¹, Yan Huang¹, Angelique Biancotto⁸ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Department of Rheumatology, Shandong Provincial Qianfoshan Hospital, Shandong University, Shandong, China, ³Icahn School of Medicine at Mount Sinai, New York, NY, ⁴RK Mellon Institute for Pediatric Research, University of Pittsburgh/Children's Hospital of Pittsburgh of UPMC, Pittsburrgh, PA, ⁵Pediatric Translational Research Branch, NIAMS, NIH, Bethesda, MD, ⁶Hacettepe University Vasculitis Center (HUVAC), Ankara, Turkey, ⁷Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, ⁸Center for Human Immunology Autoimmunity and Inflammation (CHI), NIAID, NIH, Bethesda, MD
Background/Purpose: Many infants and children with early-onset autoinflammatory diseases are mutation-negative for genetically known autoinflammatory diseases. Recent data suggest a role for Type-I interferon dysregulation…
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: 2855 • 2018 ACR/ARHP Annual Meeting
Expanding the Phenotype: New Variant in the IL1RN-Gene Associated with Late Onset and Atypical Presentation of Dira
Jasmin B. Kuemmerle-Deschner¹, Konstanze Hoertnagel², Susanne Schlipf³, Sandra Hansmann⁴, Toni Hospach⁵, Ilias Tsiflikas⁶, Xiao Liu⁷, Susanne Benseler⁸ and Alexander Weber⁷, ¹Department of Pediatrics, Division of Rheumatology, University Hospital Tuebingen, Germany, Tuebingen, Germany, ²Praxis für Humangenetik Tübingen,Tuebingen, Germany, Tuebingen, Germany, ³Kinderarztpraxis Dr. Lakner, Schwäbisch Gmünd, Germany, Schwäbisch Gmünd, Germany, ⁴Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tuebingen, Tuebingen, Germany, Tuebingen, Germany, ⁵Pediatrics, Olgahospital, Klinikum Stuttgart, Stuttgart, Germany, ⁶Division of Pediatric Radiology, Department of Radiology, University Hospital Tuebingen, Germany, Tuebingen, Germany, ⁷Department of Immunology, University of Tübingen, Tübingen, Germany, Tuebingen, Germany, ⁸Rheumatology, Department of Paediatrics, Alberta Children's Hospital, University of Calgary, Alberta, Canada, Calgary, AB, Canada
Background/Purpose: Deficiency of the Interleukin-1 receptor antagonist (DIRA) is an autoinflammatory disease of infancy characterized by severe systemic inflammation with bone and skin involvement. This…

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