Purpose of review: To summarize studies on the development and function of T-regulatory (TR) cells in primary immune deficiencies (PIDs).
Recent findings: 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.
Summary: Gene defects underlying PIDs may also compromise the TR cell, leading to breakdown of peripheral tolerance.
aDivision of Rheumatology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin
bDivision of Immunology, Allergy and Rheumatology, Department of Pediatrics, The David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, USA
Correspondence to James W. Verbsky, MD, PhD, Department of Pediatrics, Medical College of Wisconsin, WI 53211, USATel: +1 414 262 6701; fax: +1 414 266 6695; e-mail: email@example.com