FOXP3
MIM.300292 Xp11.23-q13.3
Definition: FoxP3 is a marker for immunosuppressive CD25+CD4+ regulatory T cells. These regulatory T cells are thought to play a role in inducing immune tolerance to antigens and may be selectively recruited by carcinomas.
Forkhead box P3 (FOXP3) is the gene responsible for IPEX syndrome (immune dysregulation, polyendocrinopathy, enteropathy, X-linked).
FOXP3 is located on the X chromosome and is of crucial importance for the generation of CD4+ CD25+ regulatory T cells (Tregs).
Loss of FOXP3 function and the resultant lack of regulatory T cells result in lethal auto-aggressive lymphoproliferation, whereas overexpression of this modulator results in severe immunodeficiency.
Pathology
mutation in IPEX syndrome (Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked) (MIM.304790)
Mucosal FOXP3+ regulatory T cells are numerically deficient in acute and chronic GvHD. (#16278306#)
See also
CD4+CD25+ regulatory T cells (Tregs)
IPEX syndrome
Reviews
Ochs HD, Ziegler SF, Torgerson TR. FOXP3 acts as a rheostat of the immune response. Immunol Rev. 2005 Feb;203:156-64. PMID: #15661028#
References
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. d’Hennezel E, Ben-Shoshan M, Ochs HD, Torgerson TR, Russell LJ, Lejtenyi C, Noya FJ, Jabado N, Mazer B, Piccirillo CA. N Engl J Med. 2009 Oct 22;361(17):1710-3. PMID: #19846862#
Foxp3 regulates megakaryopoiesis and platelet function. Bernard JJ, Seweryniak KE, Koniski AD, Spinelli SL, Blumberg N, Francis CW, Taubman MB, Palis J, Phipps RP. Arterioscler Thromb Vasc Biol. 2009 Nov;29(11):1874-82. PMID: #19661482#
Epigenetic mechanisms of regulation of Foxp3 expression. Lal G, Bromberg JS. Blood. 2009 Oct 29;114(18):3727-35. PMID: #19641188#
The biology of FoxP3: a key player in immune suppression during infections, autoimmune diseases and cancer. Mercer F, Unutmaz D. Adv Exp Med Biol. 2009;665:47-59. PMID: #20429415#
Molecular regulation of cellular immunity by FOXP3. McMurchy AN, Di Nunzio S, Roncarolo MG, Bacchetta R, Levings MK. Adv Exp Med Biol. 2009;665:30-46. PMID: #20429414#
Rieger K, Loddenkemper C, Maul J, Fietz T, Wolff D, Terpe H, Steiner B, Berg E, Miehlke S, Bornhauser M, Schneider T, Zeitz M, Stein H, Thiel E, Duchmann R, Uharek L. Mucosal FOXP3+ regulatory T cells are numerically deficient in acute and chronic GvHD. Blood. 2006 Feb 15;107(4):1717-23. PMID: #16278306#