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FOXP3

MIM.300292 Xp11.23-q13.3

scurfin, JM2

 

Forkhead box P3 (FOXP3) is the gene responsible for IPEX (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.

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)

References

-  Ochs HD, Ziegler SF, Torgerson TR. FOXP3 acts as a rheostat of the immune response. Immunol Rev. 2005 Feb;203:156-64. PMID: #15661028#



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