Abstracts tagged "genetics and phospholipase"

Abstract Number: 1971 • ACR/ARHP Annual Meeting 2018
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…