FOXP3isamemberoftheforkhead/winged-helixfamilyoftranscriptionalregulatorsandishighlyconservedacrossmammals.FOXP3isessentialfornormalimmunehomeostasis.FOXP3isstablyandconstitutivelyexpressedatahighlevelinCD25+CD4positiveregulatoryTcells,alowlevelinCD4-positive/CD25-negativecells,andisabsentinCD4-negative/CD8-positiveTcells.FOXP3maybeamasterregulatorygeneandamorespecificMarkerofregulatoryTcellsthanotherTcells.
DefectsinFOXP3arethecauseofimmunodeficiencypolyendocrinopathy,enteropathy,X-linkedsyndrome(IPEX)[MIM:304790];alsoknownasX-linkedautoimmunity-immunodeficiencysyndrome.IPEXischaracterizedbyneonatalonsetinsulin-dependentdiabetesmellitus,infections,secretorydiarrhea,trombocytopenia,anemiaandeczema.Itisusuallylethalininfancy.
Image:FOXP3stainingofstainingofparaffinembeddedHumanTonsil(dilution:1µg/ml).MicrowavedantigenretrievalwithTris/EDTAbufferpH9,HRP-staining.A)Nuclearstainingofscatteredcellsintheinterfolliculararea.B)Highmagnificationofpositivecells.Protocolondata-sheet.
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