Foxp3 is the “master transcriptional regulator” for CD4+regulatory T cells (Tregs) [1,2]. Naïve and memory CD4+ T cells can be differentiated into Tregs with induced expression of the Foxp3 gene [3]. Mutation in the Foxp3 gene results in hyperacti...
FOXP3 gene mutations.Suspected mutations were verified among 100 unrelated healthy controls.The function of mutations was predicted with bioinformatics software.Results Both infants had onset of the disease during neonatal period,and manifested insulin-dependent diabetes mellitus,persistent diarrhea,eczema a...
A more specific marker is the forkhead box (FOX)P3 transcription factor, which was originally implicated in regulating autoimmunity when its mutation was identified as the genetic abnormality underlying the autoimmune disease of the scurfy mouse [6], and the human neonatal immune dysregulation, polyen...
FOXP3 is an essential TF in regulatory T (Treg) cell development, in which loss-of-function mutations cause a severe multiorgan autoimmune disease, immune dysregulation, polyendocrinopathy, enteropathy and X-linked (IPEX) syndrome1,2,3,4,5. Previous studies showed that FOXP3 remodels the glob...
FOXP3 is a member of the forkhead transcription factor family. Unlike other members, it is mainly expressed in a subset ofCD4+ T-cells that play a suppressive role in the immune system. A function of FOXP3 is to suppress the function of NFAT and NFKB and
Epigenetic and immu- nological indicators of IPEX disease in subjects with FOXP3 gene mutation. J Allergy Clin Immunol. 2022. https://d oi.o rg/1 0.1 016/j. jaci.2022.09.013. 24. Borna Š, Lee E, Lakshmanan U, et al (2022) Loss of FOXP3 ...
Forkhead box P3 (FOXP3), an X-linked tumor suppressor gene, plays an important role in breast cancer. However, the biological functions of FOXP3 in breast cancer angiogenesis remain unclear. Here we found that the clinical expression of nuclear FOXP3 was inversely correlated with breast cancer ...
Protein Function disease:Defects in FOXP3 are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]; also known as X-linked autoimmunity-immunodeficiency syndrome. IPEX is characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secret...
Protein Function disease:Defects in FOXP3 are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]; also known as X-linked autoimmunity-immunodeficiency syndrome. IPEX is characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secret...
Introduction of the Foxp3 M370I genemutation led to the formation of impaired CD4+ Foxp3+ Treg cells with a highly plastic phenotype and the acquisition of a Th2-like program, resulting in the development of a Th2-biased autoimmune disease. Genomic analysis of Treg cells by RNA-sequencing,...