FOXP3 deficiency, from the mechanisms of the disease to curative strategies.
Simon BornaEric MeffreRosa BacchettaPublished in: Immunological reviews (2023)
FOXP3 gene is a key transcription factor driving immune tolerance and its deficiency causes immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome (IPEX), a prototypic primary immune regulatory disorder (PIRD) with defective regulatory T (Treg) cells. Although life-threatening, the increased awareness and early diagnosis have contributed to improved control of the disease. IPEX currently comprises a broad spectrum of clinical autoimmune manifestations from severe early onset organ involvement to moderate, recurrent manifestations. This review focuses on the mechanistic advancements that, since the IPEX discovery in early 2000, have informed the role of the human FOXP3+ Treg cells in controlling peripheral tolerance and shaping the overall immune landscape of IPEX patients and carrier mothers, contributing to defining new treatments.
Keyphrases
- early onset
- transcription factor
- regulatory t cells
- induced apoptosis
- end stage renal disease
- cell cycle arrest
- late onset
- endothelial cells
- prognostic factors
- chronic kidney disease
- newly diagnosed
- ejection fraction
- peritoneal dialysis
- cell death
- multiple sclerosis
- genome wide
- oxidative stress
- high intensity
- signaling pathway
- copy number
- dna binding
- dendritic cells
- drug induced
- patient reported