FOXP3基因突变糖尿病目的 分析两例X连锁多内分泌腺病肠病伴免疫失调综合征(immune dysregulation,polyendocrinopathy,enteropathy,X-linked,IPEX综合征)患儿的临床特点及FOXP3基因的突变类型.方法 收集患儿的临床资料,抽提患儿及其父母的外周血DNA,对FOXP3基因进行测序,对新发现的突变位点以100名无亲缘关系的健康儿童为...
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...
hypertension; and hypothyroidism. Human ortholog(s) of this gene implicated in Human papillomavirus infectious disease; colorectal cancer; immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; pulmonary tuberculosis; and type 1 diabetes mellitus. Orthologous to human FOXP3 (forkhead box P3...
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 ...
Mutations or dysregulation of the FOXP3 gene have been linked to a variety of autoimmune and inflammatory diseases, as well as certain types of cancer. In particular, the FOXP3 gene has been identified as a potential therapeutic target for cancer immunotherapy, as modulation of FOXP3 expression ...
is a member of the forkhead/winged-helix family of transcriptional regulators, and was identified as the gene defective in 'scurfy' (sf) mice. Constitutive high expression of Foxp3 mRNA has been shown in CD4+CD25+ regulatory T cells (Treg cells), and ectopic expression of foxp3 in CD4+CD2...
is a member of the forkhead/winged-helix family of transcriptional regulators, and was identified as the gene defective in 'scurfy' (sf) mice. Constitutive high expression of Foxp3 mRNA has been shown in CD4+CD25+ regulatory T cells (Treg cells), and ectopic expression of foxp3 in CD4+CD2...
Acquired aplastic anemia(AA) is a disease of bone marrow failure mediated by autoimmune T cells. CD4 + CD25 + regulatory T cells, which have immunosuppressive and anergic, belong to a subpopulation of T cells specialized for immune regulation and play important roles in the development of autoimm...
and is absent in CD4-negative/CD8-positive T cells. FOXP3 may be a master regulatory gene, and a more specific marker of regulatory T cells. Defects in the gene encoding FOXP3 protein cause the scurfy phenotype in mice. In humans FOXP3 defects play a role in IPEX syndrome (immune dysfun...
(CTLA4), glucocorticoid-induced TNF receptor family gene (GITR)andfolate receptor 4. FOXP3+T-cells are made in the thymus and periphery. The FOXP3+T-cells made in the thymus migrate to secondary lymphoid tissues and suppress antigen priming of lymphocytes. Antigen priming of naïve FOXP3+T...