Department of Health Sciences.
Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence.
Curr Opin Allergy Clin Immunol. 2024 Dec 1;24(6):457-463. doi: 10.1097/ACI.0000000000001033. Epub 2024 Oct 11.
This review aims to provide an overview of recent research findings regarding immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, focusing on clinical and immunological novelties, as well as emerging treatment strategies, based on the published literature of the last few years.
While it is well known that IPEX can present with a wide range of atypical clinical manifestations, new and unique phenotypes continue to emerge, making it essential to maintain a high level of clinical suspicion both at the time of diagnosis and during follow-up. This unpredictability in clinical presentation is further compounded by the lack of a clear genotype-phenotype correlation. A valuable tool for monitoring comes from recent discoveries regarding the epigenetic signature of Tregs, which, by correlating with disease severity, could prove to be a useful biomarker for diagnosis and ongoing management. The use of biological agents is emerging as an alternative to traditional immunosuppression. Additionally, ongoing studies are exploring the feasibility of gene therapy through the introduction of the wild-type FOXP3 into peripheral CD4 + T cells.
Further research is needed to fully understand the variable clinical presentations of IPEX and optimize tailored therapies, ensuring better management and outcomes for affected individuals.
本文旨在基于近几年的文献，对 X 连锁多内分泌腺病肠病外分泌胰腺病（IPEX）综合征的免疫失调、多内分泌腺病、肠病、X 连锁（IPEX）综合征的最新研究进展进行综述，重点关注临床和免疫学的新进展，以及新兴的治疗策略。
虽然众所周知，IPEX 可表现出广泛的非典型临床表现，但新的和独特的表型仍在不断出现，因此，在诊断时和随访期间，保持高度的临床怀疑至关重要。临床表现的不可预测性进一步因明确的基因型-表型相关性的缺乏而复杂化。最近关于调节性 T 细胞（Tregs）表观遗传特征的发现是一种有用的监测工具，通过与疾病严重程度相关联，它可能成为诊断和持续管理的有用生物标志物。生物制剂的使用正作为传统免疫抑制的替代方法出现。此外，正在进行的研究正在探索通过将野生型 FOXP3 导入外周 CD4+T 细胞来实现基因治疗的可行性。
需要进一步的研究来充分了解 IPEX 的可变临床表现，并优化定制治疗，以确保为受影响的个体提供更好的管理和结果。
