Abstract：
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.
摘要：
FOXP3基因是驱动免疫耐受的关键转录因子，其缺陷会导致免疫失调，多内分泌病,肠病X连锁综合征（IPEX），具有缺陷的调节性T（Treg）细胞的原型原发性免疫调节疾病（PIRD）。虽然危及生命,提高认识和早期诊断有助于改善对疾病的控制。IPEX目前包括广泛的临床自身免疫表现，从严重的早发性器官受累到中度，反复表现。这篇综述的重点是机械上的进步，自2000年初发现IPEX以来，已经揭示了人类FOXP3+Treg细胞在控制外周耐受性和塑造IPEX患者和携带者母亲的整体免疫景观中的作用，有助于定义新的治疗方法。
