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 Takeuchi^1,2, 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 Gül^6,9, 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…

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.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].