title: T-regulatory cells in primary immune deficiencies.
abstract: OBJECTIVE
  To summarize studies on the development and function of T-regulatory (TR) cells in primary immune deficiencies (PIDs).
  
  
  RESULTS
  PIDs are associated with high rates of autoimmunity. TR cells, which are critical to the control of autoimmunity, appear involved in the pathogenesis of PID-related autoimmunity. A number of PIDs, including Omenn's syndrome and Wiskott-Aldrich syndrome, have been associated with impaired production and/or function of thymus-derived (natural) TR cells. Recently defined primary immunodeficiencies, including Stim1 deficiency, IL-10 receptor deficiency, and xIAP deficiency, have been associated with defects in TR cells. De-novo generated TR cells from peripheral CD4 conventional T cells is impaired in the hyper IgE syndrome.
  
  
  CONCLUSIONS
  Gene defects underlying PIDs may also compromise the TR cell, leading to breakdown of peripheral tolerance.
authors: Division of Rheumatology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. jverbsky@mcw.edu
authors: James W
authors: JW
authors: Verbsky
authors: Talal A
authors: TA
authors: Chatila
mesh_terms: D000818:Animals; D015551:Autoimmunity; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000276:immunology* / Q000503:physiopathology; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics / Q000378:metabolism; D061166:Peripheral Tolerance / Q000235:genetics; D053701:Receptors, Interleukin-10 / Q000235:genetics / Q000378:metabolism; D000071737:Stromal Interaction Molecule 1; D016176:T-Lymphocyte Subsets / Q000276:immunology*; D050378:T-Lymphocytes, Regulatory / Q000276:immunology*; D051636:X-Linked Inhibitor of Apoptosis Protein / Q000235:genetics / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; D009363:Neoplasm Proteins; D053701:Receptors, Interleukin-10; C103530:STIM1 protein, human; D000071737:Stromal Interaction Molecule 1; D051636:X-Linked Inhibitor of Apoptosis Protein