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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