Expanding the spectrum of IPEX: from new clinical findings to novel treatments.

IF 3 4区 医学 Q2 ALLERGY Current Opinion in Allergy and Clinical Immunology Pub Date : 2024-12-01 Epub Date: 2024-10-11 DOI:10.1097/ACI.0000000000001033
Marta Voarino, Filippo Consonni, Eleonora Gambineri
{"title":"Expanding the spectrum of IPEX: from new clinical findings to novel treatments.","authors":"Marta Voarino, Filippo Consonni, Eleonora Gambineri","doi":"10.1097/ACI.0000000000001033","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>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.</p><p><strong>Recent findings: </strong>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.</p><p><strong>Summary: </strong>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.</p>","PeriodicalId":10956,"journal":{"name":"Current Opinion in Allergy and Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":3.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537464/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Opinion in Allergy and Clinical Immunology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/ACI.0000000000001033","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/11 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"ALLERGY","Score":null,"Total":0}
引用次数: 0

Abstract

Purpose of review: 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.

Recent findings: 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.

Summary: 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.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
扩大 IPEX 的范围:从新的临床发现到新的治疗方法。
综述目的:本综述旨在概述有关免疫调节失调、多内分泌病、肠病、X-连锁(IPEX)综合征的最新研究成果,根据过去几年发表的文献,重点介绍临床和免疫学方面的新发现以及新出现的治疗策略:众所周知,IPEX 可表现出多种不典型的临床表现,但新的、独特的表型仍在不断出现,因此在诊断时和随访期间都必须保持高度的临床怀疑。由于缺乏明确的基因型与表型之间的相关性,临床表现的不可预测性进一步加剧。最近发现的 Tregs 表观遗传特征是一种有价值的监测工具,它与疾病的严重程度相关,可被证明是诊断和持续管理的有用生物标志物。生物制剂的使用正在成为传统免疫抑制的替代方法。此外,正在进行的研究还在探索通过将野生型 FOXP3 导入外周 CD4 + T 细胞进行基因治疗的可行性:需要进一步开展研究,以充分了解 IPEX 的各种临床表现,并优化量身定制的疗法,确保为患者提供更好的管理和治疗效果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
CiteScore
5.90
自引率
3.60%
发文量
109
审稿时长
6-12 weeks
期刊介绍: This reader-friendly, bimonthly resource provides a powerful, broad-based perspective on the most important advances from throughout the world literature. Featuring renowned guest editors and focusing exclusively on one to three topics, every issue of Current Opinion in Allergy and Clinical Immunology delivers unvarnished, expert assessments of developments from the previous year. Insightful editorials and on-the-mark invited reviews cover key subjects such as upper airway disease; mechanisms of allergy and adult asthma; paediatric asthma and development of atopy; food and drug allergies; and immunotherapy.
期刊最新文献
Real-world evidence of allergen immunotherapy. eHealth in pediatric respiratory allergy. Allergen-specific immunotherapy at the extremes of age: below 5 years and elderly: evidence beyond indications? Liver disease in primary antibody deficiencies. Cost-effectiveness of allergen immunotherapy.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1