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Abstracts tagged "Autoinflammatory Disease"

  • Abstract Number: 1781 • 2013 ACR/ARHP Annual Meeting

    Clinical Variation In Children With Mutations In MEFV

    Karyl Barron1, Amanda K. Ombrello2, Ivona Aksentijevich3, Anne Jones3 and Daniel L. Kastner3, 1Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 2National Human Genome Research Institute,National Institute of Health, Bethesda, MD, 3Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD

    Background/Purpose: As a referral clinic for children with periodic fevers, we see a wide variety of clinical presentations.  While genetic testing is usually helpful in…
  • Abstract Number: 1783 • 2013 ACR/ARHP Annual Meeting

    Canakinumab Treatment In Active Hyper-IgD With Periodic Fever Syndrome

    Juan Ignacio Aróstegui1, Inmaculada Calvo2, Jordi Anton3, Angel Robles4, Jordi Yagüe1, Ruth Viana5, Lillian Tseng6 and Ken Abrams6, 1Immunology Department, Hospital Clinic Barcelona, Barcelona, Spain, 2Hospital La Fe, Valencia, Spain, 3Rheumatology, Hospital Sant Joan de Deu, Barcelona, Spain, 4Hospital La Paz, Madrid, Spain, 5Medical Department, Novartis Farmacéutica, S.A., Barcelona, Spain, 6Novartis Pharmaceuticals Corporation, East Hanover, NJ

    Background/Purpose: Hyper-IgD with periodic fever syndrome (HIDS) is a recessively inherited autoinflammatory disease due to biallelic MVK mutations. It is characterized by 4-6 days-long acute…
  • Abstract Number: 1703 • 2013 ACR/ARHP Annual Meeting

    High Density Genotyping Of Immune-Related Disease Genes Identifies 7 New Susceptibility Loci For Behçet’s Disease

    Masaki Takeuchi1,2, Nobuhisa Mizuki2, Akira Meguro2, Michael J. Ombrello3, Colleen Satorius4, Yohei Kirino2, Tatsukata Kawagoe2, Duran Ustek5, Ilknur Tugal-tutkun6, Emire Seyahi7, Yilmaz Ozyazgan7, Shigeaki Ohno8, Atsuhisa Ueda2, Yoshiaki Ishigatsubo2, Ahmet Gül6,9, Daniel L. Kastner4 and Elaine Remmers4, 1Medical Genetics Branch, Inflammation Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 2Yokohama City University Graduate School of Medicine, Yokohama, Japan, 3Translational Genetics and Genomics Unit, National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 4Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 5Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey, 6Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, 7Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, 8Hokkaido University Graduate School of Medicine, Hokkaido, Japan, 9Department of Internal Medicine, Rheumatology Division, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey

    Background/Purpose: Genome-wide association studies have revealed susceptibility genes for many genetically complex diseases. The Immunochip is a custom array with 196,524 markers in 186 loci…
  • Abstract Number: 1355 • 2013 ACR/ARHP Annual Meeting

    Subcutaneous Administration Of Methotrexate With a Prefilled Autoinjector Pen Results In a Higher Relative Bioavailability Compared To Oral Administration Of Methotrexate

    Uwe Pichlmeier and Kay-Uwe Heuer, medac GmbH, Wedel, Germany

    Background/Purpose: Methotrexate (MTX) is commonly used in the treatment of RA, psoriasis, and psoriatic arthritis. Subcutaneously administered MTX is well absorbed and appears to overcome…
  • Abstract Number: 1297 • 2013 ACR/ARHP Annual Meeting

    Human IL-1alpha Conditional Transgenic Mice Mimic Autoinflammatory Syndromes In Human

    Hiroya Kanagawa1, Yasuo Niki2, Yoshiaki Toyama3 and Takeshi Miyamoto4, 1Department of Orthopaedic Surgery, Keio University, Shinjuku-ku, Tokyo, Japan, 2Orthopaedic Surgery, Department of Orthopaedic Surgery, Keio University, Tokyo, Japan, 3Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan, 4Department of Orthopaedic Surgery, Keio University, Shinjuku-ku,Tokyo, Japan

    Background/Purpose: Recently, IL-1 is implicated in the pathogenesis of autoinflammatory syndrome, which characterized by rash, fever, systemic polyarthritis and neurological comorbidity. Recently, IL-1 becomes noticed…
  • Abstract Number: 1203 • 2013 ACR/ARHP Annual Meeting

    An Escalating Dose Of Anakinra In Patients With Autoinflammatory Disease Is a Safe and Reasonable Therapeutic Option

    Amanda K. Ombrello1, Karyl Barron2, Patrycja M. Hoffmann3, Anne Jones3, Deborah Stone4 and Daniel L. Kastner5, 1National Human Genome Research Institute,National Institute of Health, Bethesda, MD, 2Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 3Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 4National Human Genome Research Institute, Bethesda, MD, 5Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD

    Background/Purpose:   The autoinflammatory diseases are diseases in which there is seemingly unprovoked stimulation of the innate immune system.  The enhanced release of cytokines in…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

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