Abstracts tagged "Genetic disorders"

Abstract Number: 1266 • 2019 ACR/ARP Annual Meeting
AGBL3 as a Novel Gene Associated with Hereditary Hypocomplementemic Urticarial Vasculitis and Favorable Response to Rituximab
Ahmet Gul¹, Nesllihan Abaci ² and Sema Sirma-Ekmekci ², ¹Department of Internal Medicine, Division of Rheumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, Istanbul, Turkey, ²Department of Genetics, Istanbul University Institute for Experimental Medical Research, Istanbul, Turkey, Istanbul, Turkey
Background/Purpose: Urticarial skin lesions are well-known features of autoinflammatory disorders associated with NLRP3 and NLRP12 variants. However hereditary forms of hypocomplementemic urticarial vasculitis (HUV) with…
Abstract Number: 1969 • 2018 ACR/ARHP Annual Meeting
GENE Enhancers Associated with an Increase Risk of Developing JIA Fail to DOWN Regulate RUNX1 after CELL Stimulation
Annie Yarwood¹, Kate Duffus², Christopher Taylor³, Amanda McGovern², Stephen Eyre⁴ and Wendy Thomson⁵, ¹Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom, ²Arthritis Research UK Centre for Genetics and Genomics, University of Manchester, Manchester, United Kingdom, ³University of Manchester, Manchester, United Kingdom, ⁴NIHR Manchester Musculoskeletal Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester, United Kingdom, ⁵Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom
Background/Purpose: In recent years there have been tremendous strides in determining the genetic component of complex diseases, not least in Juvenile Idiopathic Arthritis (JIA). We…
Abstract Number: 2790 • 2018 ACR/ARHP Annual Meeting
Screening of Patients with Adult-Onset Idiopathic Polyarteritis Nodosa for Deficiency of Adenosine Deaminase 2
Oskar Schnappauf¹, Monique Stoffels², Ivona Aksentijevich², Daniel L. Kastner², Peter C. Grayson³, David Cuthbertson⁴, Simon Carette⁵, Sharon A. Chung⁶, Lindsy J. Forbess⁷, Nader A. Khalidi⁸, Curry L. Koening⁹, Carol Langford¹⁰, Carol A. McAlear¹¹, Paul A. Monach¹², Larry W. Moreland¹³, Christian Pagnoux¹⁴, Philip Seo¹⁵, Jason Springer¹⁶, Antoine G. Sreih¹⁷, Kenneth J. Warrington¹⁸, Steven R. Ytterberg¹⁸ and Peter A. Merkel¹⁹, ¹NHGRI, National Institutes of Health, Bethesda, MD, ²Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³National Institute of Arthritis, Musculoskeletal and Skin Disease, National Institutes of Health, Bethesda, MD, ⁴Biostatistics and Informatics, Department of Pediatrics, Department of Biostatistics and Informatics, Department of Pediatrics, University of South Florida, Tampa, FL, ⁵Division of Rheumatology, Mount Sinai Hospital, Toronto, ON, Canada, ⁶Russell/Engleman Rheumatology Research Center, University of California, San Francisco, San Francisco, CA, ⁷Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA, ⁸Rheumatology, McMaster University, Hamilton, ON, Canada, ⁹Rheumatology, Division of Rheumatology, University of Utah, Salt Lake City, UT, ¹⁰Rheumatic and Immunologic Diseases, Department of Rheumatic and Immunologic Diseases, Cleveland Clinic, Cleveland, OH, ¹¹Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, ¹²Section of Rheumatology, Boston University School of Medicine, Boston, MA, ¹³Division of Rheumatology and Clinical Immunology, Division of Rheumatology, University of Pittsburgh, Pittsburgh, PA, ¹⁴Division of Rheumatology, Division of Rheumatology, Mount Sinai Hospital, Toronto, ON, Canada, ¹⁵Medicine, Division of Rheumatology, Johns Hopkins University, Baltimore, MD, ¹⁶Department of Internal Medicine, The University of Kansas Medical Center, Division of Allergy, Clinical Immunology & Rheumatology, Kansas City, KS, ¹⁷Rheumatology, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, ¹⁸Rheumatology, Division of Rheumatology, Mayo Clinic College of Medicine, Rochester, MN, ¹⁹Division of Rheumatology and the Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania, Philadelphia, PA
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is the first described type of monogenic vasculitis. Patients usually present in childhood, but age of onset, disease…
Abstract Number: 378 • 2017 ACR/ARHP Annual Meeting
Musculoskeletal Features in Copa Syndrome
William B. Lapin¹, Monica Marcus², Andrea A. Ramirez³, Marietta M. de Guzman³ and Levi B. Watkin^4,5, ¹Department of Pediatrics, Division of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, ²Pediatric Immunology, Allergy and Rheumatology, Texas Children's Hospital, Houston, TX, ³Immunology, Allergy and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, ⁴Department of Pediatrics, Division of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Houston, TX, ⁵Texas Children's Hospital, Center for Human Immunobiology, Houston, TX
Background/Purpose: COPA syndrome is a newly discovered primary immunodeficiency resulting in immune dysregulation showing autosomal dominant inheritance with incomplete penetrance. Its name is derived from…
Abstract Number: 2345 • 2017 ACR/ARHP Annual Meeting
Characterization of Adenosine Deaminase 2 Variants Identified in an International Pediatric Vasculitis Cohort
Kristen Gibson^1,2, David Cabral^3,4, Britt Drogemoller⁵, Xiaohua Xhan⁵, Fudan Miao⁶, Kimberly Morishita⁷, Erin Gill⁸, Robert E. W. Hancock⁸, Colin Ross^5,9 and Kelly Brown^9,10, ¹Medical Genetics, The University of British Columbia, Vancouver, BC, Canada, ²BC Children's Hospital Research Insitute, Vancouver, BC, Canada, ³BC Children's Hospital, Vancouver, BC, Canada, ⁴University of British Columbia, Vancouver, BC, Canada, ⁵Pharmaceutical Sciences, The University of British Columbia, Vancouver, BC, Canada, ⁶The University of British Columbia, Vancouver, BC, Canada, ⁷BC Children's Hospital and University of British Columbia, Vancouver, BC, Canada, ⁸Microbiology and Immunology, The University of British Columbia, Vancouver, BC, Canada, ⁹BC Children's Hospital Research Institute, Vancouver, BC, Canada, ¹⁰Pediatrics, The University of British Columbia, Vancouver, BC, Canada
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is a recently recognized, autosomal recessive genetic disease. Patients present with various, early-onset systemic vascular and inflammatory manifestations,…
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: 10 • 2017 Pediatric Rheumatology Symposium
Severe Juvenile Arthritis Associated with a De Novo Gain-of-Function Germline Mutation in MYD88
Keith A. Sikora¹, Joshua R. Bennett¹, Zuoming Deng², Wanxia Li Tsai³, April D. Brundidge³, Fatemeh Navid³, Gerlinde Layh-Schmitt³, Eric Hanson⁴, Massimo G. Gadina⁵, Louis M. Staudt⁶, Thomas A. Griffin⁷ and Robert Colbert³, ¹Pediatric Translational Research Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ²Biodata Mining & Discovery, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁴Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁵Translational Immunology, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁶National Cancer Institute, National Institutes of Health, Bethesda, MD, ⁷Levine Children’s Hospital at Carolinas Medical Center, Charlotte, NC
Background/Purpose: Myeloid differentiation primary response 88 (MyD88) is a critical adaptor protein that connects Toll-like and IL-1 receptor signaling to activation of NF-κB. Germline loss-of-function…
Abstract Number: 150 • 2017 Pediatric Rheumatology Symposium
Childhood-onset Takayasu Arteritis Associated with Mutations in CBL
Arturo Borzutzky^1,2, Charlotte Niemeyer³, Guillermo Pérez-Mateluna⁴, Cecilia Mellado⁵, Miriam Erlacher³, Marena Niewisch⁶, Mariana Aracena⁵ and Cristián García⁷, ¹Department of Pediatric Infectious Diseases and Immunology, Pontificia Universidad Católica de Chile, Santiago, Chile, ²Millennium Institute on Immunology and Immunotherapy, Santiago, Chile, ³Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine,, University Medical Center Freiburg, Freiburg, Germany, ⁴Pediatric Infectious Diseases and Immunology, Pontificia Universidad Católica de Chile, Santiago, Chile, ⁵Section of Genetics, Department of Pediatrics, Pontificia Universidad Católica de Chile, Santiago, Chile, ⁶Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Freiburg, Germany, ⁷Department of Radiology, Pontificia Universidad Católica de Chile, Santiago, Chile
Background/Purpose: Takayasu arteritis (TA) is an inflammatory large-vessel vasculitis of unknown etiology that rarely presents in childhood. No monogenic etiologies of TA have been identified.…
Abstract Number: 1209 • 2016 ACR/ARHP Annual Meeting
Sporadic Hemophagocytic Lymphohistiocytosis (sHLH): A Polygenic Disease? a Report of French National, Prospective, Cohort of 205 Patients
Coralie Bloch-Queyrat^1,2, Jean Philippe Jais³, Marine Gil⁴, Brigitte Bader-Meunier⁵, Olivier Hermine^6,7 and Genevieve de Saint-Basile⁴, ¹Clinical Research Unit, University Hospital Paris Seine Saint Denis, AP-HP, Bobigny, France, ²Laboratory of cellular and molecular mechanisms of hematological disorders and therapeutic implications INSERM U 1163 / CNRS ERL 8254 Institut IMAGINE, Paris, paris, France, ³Biostatstical Departement, Department of biostatistics Necker Enfants Malades Hospital, AP-HP, Paris, France, ⁴Normal and pathological homeostasis of the immune system laboratory Institut IMAGINE Paris, Paris, France, ⁵Pediatric Rheumatology & Immunology, Pediatric Rheumatology & Immunology, Necker hospital, Imagine Institution, Paris, France, ⁶Department of Hematology, Hôpital Necker, Paris, France, ⁷Laboratory of cellular and molecular mechanisms of hematological disorders and therapeutic implications INSERM U 1163 / CNRS ERL 8254 Labex on Red cell and iron metabolism Institut IMAGINE, Paris, France
Background/Purpose: The role of genetic factors in the occurrence and/or severity of sHLH is not yet known. Therefore, from 2010 to 2016, we performed a…
Abstract Number: 1355 • 2016 ACR/ARHP Annual Meeting
ASAH1 Gene Mutations Cause Acid Ceramidase Deficiency (Farber Disease), with Symptoms Including Arthritis and Subcutaneous Nodules. Patients Are Often Misdiagnosed with JIA, and Slowly Progressive Disease May Only be Diagnosed in Adulthood
Alexander Solyom¹, Calogera Simonaro² and Edward Schuchman³, ¹Roivant Sciences, New York, NY, ²Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, ³Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY
Background/Purpose: Mutations in the ASAH1 gene cause acid ceramidase deficiency, accumulation of the pro-inflammatory and pro-apoptotic lipid ceramide, and a distinct set of clinical features,…
Abstract Number: 1989 • 2016 ACR/ARHP Annual Meeting
Mechanism of STAT3 Gain-of-Function in a Patient with JIA
Tiphanie P. Vogel^1,2, Nermina Saucier³, Molly P. Keppel³ and Megan A. Cooper^3,4, ¹Pediatrics/Rheumatology, Washington University in St. Louis, St. Louis, MO, ²Internal Medicine/Rheumatology, Washington University in St. Louis, Saint Louis, MO, ³Pediatrics/Rheumatology, Washington University in St. Louis, Saint Louis, MO, ⁴Pathology and Immunology, Washington University in St. Louis, Saint Louis, MO
Background/Purpose: The transcription factor signal transducer and activator of transcription 3 (STAT3) mediates cytokine-induced changes in gene expression. STAT3 is classically activated by phosphorylation followed…
Abstract Number: 94 • 2015 ACR/ARHP Annual Meeting
NGS Panel for the Detection of Monogenic SLE in Children: Initial Results
Alexandre Belot¹, Gillian Rice², Anne-Laure Mathieu¹, Brigitte Bader-Meunier³, Thierry Walzer¹, Tracy A. Briggs², James O'Sullivan⁴, Simon Wiliams⁵, Michael W. Beresford⁶, Yanick Crow^2,7 and GENIAL Investigators, UK JSLE Study Group, ¹INSERM U1111, Lyon, France, ²Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom, ³Pediatric Rheumatology & Immunology, Necker hospital, Imagine Institution, Paris, France, ⁴University of Manchester, Manchester, United Kingdom, ⁵University of Manchester, Manchester, France, ⁶Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom, ⁷Neuroinflammation, Institut Imagine, Paris, France
Background/Purpose: Next generation sequencing (NGS) represents a revolution in the field of molecular medicine, and offers a new approach to deciphering the pathogenesis of complex…
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: 1462 • 2015 ACR/ARHP Annual Meeting
Farber Disease: Important Differential Diagnostic Information for JIA and Other Inflammatory Arthritis Phenotypes Is Revealed By Data from the Largest Clinical Cohort to Date
Alexander Solyom¹, Boris Huegle², Bo Magnusson³, Balahan Makay⁴, Nur Arslan⁵, John Mitchell⁶, Pranoot Tanpaiboon⁷, Norberto Guelbert⁸, Ratna Puri⁹, Lawrence Jung¹⁰, Giedre Grigelioniene¹¹, Karoline Ehlert¹², Michael Beck¹³, Calogera Simonaro¹⁴ and Edward Schuchman¹⁵, ¹Pediatrics, University of Pecs, Pecs, Hungary, ²Pediatric Rheumatology, German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen, Germany, ³Pediatric Rheumatology, Karolinska University Hospital, Stockholm, Sweden, ⁴Pediatric Rheumatology, Eylul University, Izmir, Turkey, ⁵Eylul University, Izmir, Turkey, ⁶Pediatric Endocrinology, Montreal Children's Hospital, Montreal, QC, Canada, ⁷Genetics and Metabolism, Children's National Medical Center, Washington, DC, ⁸Metabolic Diseases Section, Children’s Hospital of Cordoba, Cordoba, Argentina, ⁹Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India, ¹⁰Pediatric Rheumatology, Children's National Med Ctr, Washington, DC, ¹¹Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden, ¹²University Medical Center - Greifswald, Greifswald, Germany, ¹³Institute of Human Genetics, University Medical Center - Mainz, Mainz, Germany, ¹⁴Genetics and Genomic Sciences, Icahn School of Medicine at Mt. Sinai, New York, NY, ¹⁵Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY
Background/Purpose: Farber disease (Farber lipogranulomatosis; acid ceramidase deficiency) is a rare lysosomal storage disorder resulting from the inherited deficiency of the enzyme acid ceramidase due…
Abstract Number: 1465 • 2015 ACR/ARHP Annual Meeting
Musculoskeletal Anomalies in Children with Trisomy 21
charlene foley¹, Orla G killeen¹ and emma Jane macDermott², ¹Our Lady's Children's Hospital Crumlin, National Centre for Paediatric Rheumatology, Dublin, Ireland, ²our Lady's Children's Hospital Crumlin, National Centre for Paediatric Rheumatology, Dublin, Ireland
Background/Purpose: Musculoskeletal complications of Trisomy 21 (T21) are common. Almost all children with T21 have muscle hypotonia and joint laxity. The combination of this ligamentous…

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