ACR Meeting Abstracts

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Abstracts tagged "CVID"

  • Abstract Number: 018 • 2020 Pediatric Rheumatology Symposium

    Functional Characterization of PLCG2 Mutations Found in Subjects with Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) Reveals Both Hypermorphic and Hypomorphic Mutants

    Kathleen Baysac1, Charles Fisher 1, Hiroto Nakano 1, Guangping Sun 2, Joshua Milner 3 and Michael Ombrello 1, 1NIAMS, NIH, Bethesda, 2NIAID, NIH, Bethesda, 3

    Background/Purpose: PLCG2-associated antibody deficiency and immune dysregulation (PLAID) and autoinflammatory PLAID (APLAID) are autosomal dominant diseases caused by mutations of PLCG2. APLAID is clinically characterized…
  • Abstract Number: 366 • 2018 ACR/ARHP Annual Meeting

    Infectious Complications of Immunosuppressive Therapy in Patients with Common Variable Immunodeficiency (CVID) and Inflammatory Arthritis

    Fatima Alduraibi1, Monica Lawrence2, Larry Borish2 and Adam Carlson3, 1Department of Medicine, University of Virginia Health System, charlottesville, VA, 2Department of Medicine, Division of Allergy and Immunology, University of Virginia Health System, Charlottesville, VA, 3Department of Medicine, Division of Rheumatology, University of Virginia Health System, Charlottesville, VA

    Background/Purpose: Common variable immunodeficiency (CVID) is one of the most common symptomatic primary immunodeficiency syndrome with an incidence of ~1 in 25,000 people. CVID is…
  • Abstract Number: 1971 • 2018 ACR/ARHP Annual Meeting

    PLCG2 Variants Influence CVID Susceptibility: Expanding the Spectrum of PLCG2-Associated Immune Dysregulation

    Ann Marie Szymanski1, Kathleen Baysac1, Hannah Marcy1, Elizabeth Baskin1, Joshua Milner2 and Michael Ombrello1, 1Translational Genetics and Genomics Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, 2Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD

    Background/Purpose: Immune dysregulation refers to alterations in immune signaling leading to development of autoimmunity, infection and atopic disease. Common variable immunodeficiency (CVID), a prototypic disorder…
  • Abstract Number: 1167 • 2017 ACR/ARHP Annual Meeting

    Phenotypical Features of Patients with Rheumatologic Manifestations of Common Variable Immunodeficiency

    MARIA GUTIERREZ1, Kathleen E. Sullivan2, Ramsay Fuleihan3 and Clifton O. Bingham III4, 1Pediatrics, Johns Hopkins University, BALTIMORE, MD, 2Pediatrics, University of Pennsylvania, Philadelphia, PA, 3Pediatrics, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, 4Rheumatology, Johns Hopkins University, Baltimore, MD

    Background/Purpose: Patients with common variable immunodeficiency (CVID) have a higher incidence of rheumatologic disorders. To delineate this clinical association, we investigated the phenotypical features of…
  • Abstract Number: 706 • 2014 ACR/ARHP Annual Meeting

    Humoral Immunodeficiency in Patients Presenting with Clinical Features of Systemic Lupus Erythematosus

    W. Winn Chatham1, Duncan Harmon2 and Harry W. Schroeder Jr.3, 1University of Alabama at Birmingham, Birmingham, AL, 2Medicine/Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, 3Medicine, University of Alabama-Birmingham, Birmingham, AL

    Background/Purpose: Humoral immunodeficiency syndromes including common variable immune deficiency (CVID) are not uncommonly associated with autoimmunity. The spectrum of autoimmune disorders encountered in CVID patients…
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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.

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