title: Autoimmune Disease in Primary Immunodeficiency: At the Crossroads of Anti-Infective Immunity and Self-Tolerance.
abstract: The association of autoimmunity and primary immunodeficiency suggests the existence of mechanistic links between development of the various elements of the immune system and the maintenance of self-tolerance. In this review, various monogenic primary immunodeficiencies (PID) are systematically explored, with a specific focus on the impact of these genetic lesions on tolerance, correlating these defects in tolerance with clinical autoimmune and inflammatory syndromes seen in these PIDs. Common variable immunodeficiency (CVID) is explored, and areas are highlighted in which findings in monogenic PID are beginning to illuminate the mechanisms behind these conditions in CVID.
authors.affiliation: Division of Allergy and Immunology, Department of Internal Medicine, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-8859, USA.
authors.forename: Maryam
authors.initials: M
authors.lastname: Saifi
authors.affiliation: Division of Allergy and Immunology, Department of Internal Medicine, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-8859, USA. Electronic address: Christian.Wysocki@utsouthwestern.edu.
authors.forename: Christian A
authors.initials: CA
authors.lastname: Wysocki
mesh_terms: D001327:Autoimmune Diseases / Q000150:complications* / Q000209:etiology* / Q000378:metabolism; D015551:Autoimmunity / Q000235:genetics / Q000276:immunology; D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D017074:Common Variable Immunodeficiency / Q000150:complications; D006801:Humans; D007108:Immune Tolerance / Q000235:genetics / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000209:etiology* / Q000378:metabolism; D007249:Inflammation / Q000209:etiology; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism
keywords: Apoptosis; Autoimmunity; Common variable immunodeficiency; Primary immunodeficiency; Regulatory T cell; Tolerance