ACR Meeting Abstracts

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Abstracts tagged "family studies and genetics"

  • Abstract Number: 673 • 2018 ACR/ARHP Annual Meeting

    Chronic Back Pain (CBP) in First Degree Relatives (FDRs) of Patient with Ankylosing Spondylitis (AS): Comparison with the US Population, HLA-B27 Frequency and Persistence of Symptoms over Time

    John D. Reveille1, MinJae Lee2, Laura A. Diekman3, Michael Ward4, Lianne S. Gensler5, Amirali Tahanan2, Mohammad H. Rahbar6 and Michael Weisman7, 1McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX, 2Biostatistics/Epidemiology/Research Design (BERD) Core | Center for Clinical and Translational Sciences, University of Texas-McGovern Medical School, Houston, TX, 3Rheumatology, McGovern Medical School at the University of Texas Health Science Center at Houston, USA, Houston, TX, 4National Institutes of Health, Bethesda, MD, USA, Bethesda, MD, 5University of California San Francisco, San Francisco, CA, 6Biostatistics/Epidemiology/Research Design (BERD) Core | Center for Clinical and Translational Sciences, McGovern Medical School at the University of Texas Health Science Center at Houston, USA, Houston, TX, 7Harbor UCLA Medical Center, Los Angeles, CA

    Background/Purpose: We examined first degree relatives (FDRs) of patients with ankylosing spondylitis (AS) patients with chronic inflammatory back pain (CIBP), non-inflammatory CBP (NICBP) and no…
  • Abstract Number: 918 • 2018 ACR/ARHP Annual Meeting

    A Novel Familial RELA Truncation Is Associated with Behçet’s-like Mucocutaneous Ulceration Syndrome

    Emma Dorris1, Fahd Adeeb2, Eoin Cummins3, Sinisa Savic4, Sandy Fraser5 and Anthony G. Wilson6, 1UCD Conway Institute,, UCD Centre for Arthritis Research, Dublin 4, Ireland, 2Department of Rheumatology, University of Limerick, LIMERICK, Ireland, 3School of Medicine, Dublin 4, Ireland, 4Leeds Institute of Rheumatic and Musculoskeletal Medicine, The University of Leeds, Leeds, United Kingdom, 5Rheumatology, Croom Orthopedic Hospital, Ireland, Limerick, Ireland, 6UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Dublin, Ireland

    Background/Purpose: Bechet’s disease (BD) is a heterogeneous multifactorial auto-inflammatory condition characterized by recurrent episodes of oral and genital ulceration, uveitis and skin lesions, with less…
  • Abstract Number: 1960 • 2018 ACR/ARHP Annual Meeting

    Exome Sequencing Reveals Rare Recessive Mutations in Multiple Genes Including FAS, RAD51B, and ISG15 in a Single Family with Lupus and Suggests a Unique Genetic Model

    Jessie Alperin1, Khader Mustafa2, Ola Hijjawi2, Patrick Coit3, Kenneth Kaufman4 and Amr H Sawalha3, 1University of Michigan Medical System, Ann Arbor, MI, 2Division of Rheumatology, The University of Jordan, Amman, Jordan, 3Division of Rheumatology, University of Michigan, Ann Arbor, MI, 4Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Lupus is a complex heterogeneous disease, which can affect almost any organ system. The genetic etiology of lupus is complex, with multiple genetic susceptibility…
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ACR Pediatric Rheumatology Symposium 2020

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