Basic information of FOXP3 :
| Official Symbol of Gene | FOXP3 |
| Species | Homo sapiens |
| Entrez Gene ID | 50943 |
| Official Full Name | forkhead box P3 |
| Also known as | JM2; AIID; IPEX; PIDX; XPID; DIETER |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000049768 MIM:300292; AllianceGenome:HGNC:6106 |
| Map Location | Xp11.23 |
| Variation Type | N/A |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | CD4+ Foxp3+ cells |
| Detected Method | methylation-specific polymerase chain reaction |
| Disease | MSã€primary immune thrombocytopenia |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 15 with multiple sclerosisã€16 with primary immune thrombocytopenia(primary ITP)and 19 healthy subjects |
Literature information of multiple sclerosis :
| Pubmed ID | 32317002 |
| Year | 2020 |
| Title | A unique thymus-derived regulatory T cell subset associated with systemic lupus erythematosus |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | CD4+ Foxp3+ T cells were increased in SLE patients compared with organ-specific autoimmune disease controls or healthy controls. Circulating CD4+ Foxp3+ T cells were correlated with the disease activity of SLE. The increased CD4+ Foxp3+ T cells in active SLE patients were mainly derived from thymus-derived Treg (tTreg) cells, as determined by a demethylated TSDR status, and represented a unique phenotype, upregulated expression of CD49d, CD161, and IL-17A, with immunosuppressive ability comparable to that of healthy controls. Finally, CD4+ Foxp3+ IL-17A+ cells were infiltrated into the renal biopsy specimens of patients with active lupus nephritis. |
| Result | We have demonstrated that a dichotomic tTreg subset with both immunoregulatory and Th17 phenotypes is increased in the circulation of SLE patients. This tTreg subset might be involved in the pathogenic process of SLE by infiltrating into the effected tissue, although whether this subset is harmful or protective remains unclear. Further studies investigating the roles of this tTreg subset in the pathogenic process of SLE and the mechanisms underlying its differentiation are useful for understanding the pathogenesis of SLE and developing potential biomarkers and therapeutic targets |
| Mechanism/Pathway | A unique tTreg subset with dichotomic immunoregulatory and T helper 17 phenotypes is increased in the circulation of SLE patients and may be involved in the pathogenic process of SLE |
