Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations
Borna Š, Lee E, Nideffer J, Ramachandran A, Wang B, Baker J, Mavers M, Lakshmanan U, Narula M, Garrett A, Schulze J, Olek S, Marois L, Gernez Y, Bhatia M, Chong H, Walter J, Kitcharoensakkul M, Lang A, Cooper M, Bertaina A, Roncarolo M, Meffre E, Bacchetta R. Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations. Science Translational Medicine 2023, 15: eadg6822. PMID: 38117899, PMCID: PMC11070150, DOI: 10.1126/scitranslmed.adg6822.Peer-Reviewed Original ResearchConceptsAutoreactive effector T cellsEffector T cellsAutoreactive T cellsT cellsThymic-derived regulatory T cellsHematopoietic stem cell transplantationT cell receptor repertoireEctodermal dystrophy syndromeT-cell abnormalitiesRegulatory T cellsStem cell transplantationT cell autoreactivityCell receptor repertoireTranscription factor Foxp3FOXP3 mutationsImmunomodulatory treatmentImmune dysregulationPeripheral toleranceCell transplantationFoxp3 deficiencyTCR sequencingFactor Foxp3Patient's TCell abnormalitiesPatientsFOXP3 deficiency, from the mechanisms of the disease to curative strategies
Borna S, Meffre E, Bacchetta R. FOXP3 deficiency, from the mechanisms of the disease to curative strategies. Immunological Reviews 2023, 322: 244-258. PMID: 37994657, DOI: 10.1111/imr.13289.Peer-Reviewed Original ResearchDefective regulatory T cellsPrimary Immune Regulatory DisordersImmune regulatory disordersRegulatory T cellsIPEX patientsAutoimmune manifestationsOrgan involvementTreg cellsImmune dysregulationPeripheral toleranceImmune landscapeImmune toleranceHuman FOXP3Foxp3 deficiencyFOXP3 geneCurative strategiesT cellsEarly diagnosisCarrier mothersNew treatmentsRecurrent manifestationsRegulatory disordersKey transcription factorDiseaseManifestations