title: Autoimmune and Lymphoproliferative Complications of Common Variable Immunodeficiency.
abstract: Common variable immunodeficiency (CVID) is frequently complicated by the development of autoimmune and lymphoproliferative diseases. With widespread use of immunoglobulin replacement therapy, autoimmune and lymphoproliferative complications have replaced infection as the major cause of morbidity and mortality in CVID patients. Certain CVID complications, such as bronchiectasis, are likely to be the result of immunodeficiency and are associated with infection susceptibility. However, other complications may result from immune dysregulation rather than immunocompromise. CVID patients develop autoimmunity, lymphoproliferation, and granulomas in association with distinct immunological abnormalities. Mutations in transmembrane activator and CAML interactor, reduction of isotype-switched memory B cells, expansion of CD21 low B cells, heightened interferon signature expression, and retained B cell function are all associated with both autoimmunity and lymphoproliferation in CVID. Further research aimed to better understand that the pathological mechanisms of these shared forms of immune dysregulation may inspire therapies beneficial for multiple CVID complications.
authors: Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1089, New York, NY, 10029, USA. paul.maglione@mssm.edu.
authors: Paul J
authors: PJ
authors: Maglione
mesh_terms: D056735:Autoimmune Lymphoproliferative Syndrome / Q000209:etiology / Q000276:immunology*; D015551:Autoimmunity; D001402:B-Lymphocytes / Q000276:immunology; D017074:Common Variable Immunodeficiency / Q000150:complications / Q000276:immunology*; D006801:Humans; D017578:Immunoglobulin Class Switching; D009154:Mutation
keywords: Autoimmunity; Common variable immunodeficiency; Cytopenia; Granulomatous disease; Lymphoid hyperplasia