title: Immune dysregulation in primary immunodeficiency disorders.
abstract: The past several years have brought an increased awareness of the prevalence of autoimmunity and immune dysregulation among patients who have primary immunodeficiency disorders (PIDD). The recent clinical and molecular definition of PIDD, in which the primary defect is in the immunoregulatory compartment of the immune system, has offered insight into the basic mechanisms of immune tolerance, which has provided new targets and new techniques to study immune tolerance in PIDD. Many of these studies have focused on the presence and function of regulatory T (T(REG)) cells in PIDD, particularly since the discovery of murine and human syndromes associated with T(REG) deficiency. This article focuses on the current state of knowledge regarding the role of T(REG) in various PIDD that have clinical features indicative of dysregulated immunity.
authors.affiliation: Divisions of Pediatric Immunology and Rheumatology, University of Washington School of Medicine and Children's Hospital Regional Medical Center, Seattle, WA 98109, USA. troy.torgerson@seattlechildrens.org
authors.forename: Troy R
authors.initials: TR
authors.lastname: Torgerson
mesh_terms: D000818:Animals; D015551:Autoimmunity; D051858:Forkhead Transcription Factors / Q000378:metabolism*; D006801:Humans; D007108:Immune Tolerance; D007153:Immunologic Deficiency Syndromes / Q000276:immunology* / Q000503:physiopathology; D053645:Interleukin-2 Receptor alpha Subunit / Q000172:deficiency* / Q000276:immunology; D016884:Polyendocrinopathies, Autoimmune / Q000276:immunology; D050799:STAT5 Transcription Factor / Q000172:deficiency*; D015398:Signal Transduction; D050378:T-Lymphocytes, Regulatory / Q000276:immunology*
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; D053645:Interleukin-2 Receptor alpha Subunit; D050799:STAT5 Transcription Factor; C494095:STAT5B protein, human