Ivan Taietti, Francesco Catamerò, Lorenzo Lodi, Mattia Giovannini, Riccardo Castagnoli
{"title":"Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review.","authors":"Ivan Taietti, Francesco Catamerò, Lorenzo Lodi, Mattia Giovannini, Riccardo Castagnoli","doi":"10.1097/ACI.0000000000001059","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>Inborn errors of immunity with atopic phenotypes (IEIwA) are a subgroup of IEI that may present with severe and/or multiple atopic clinical manifestations. Because of their specific clinical management and prognosis, it is important to distinguish IEIwA from multifactorial allergic diseases. We aimed to review the main clinical manifestations associated with IEIwA and summarize the available data regarding the precision medicine approach for these conditions.</p><p><strong>Recent findings: </strong>IEIwA include more than 50 monogenic disorders marked by different immune dysregulation mechanisms such as alterations in cytokine signaling, T cell receptor function, mast cell activation, and skin barrier integrity. A critical role in diagnosis is played by advanced genetic testing. Emerging treatments include targeted monoclonal antibodies and small molecules, whereas hematopoietic stem cell transplantation (HSCT) is still a valid option for some specific disorders and may be curative also on atopic manifestations.</p><p><strong>Summary: </strong>The recognition and accurate diagnosis of IEIwA are crucial for timely and appropriate therapeutic intervention. The diagnosis should be suspected according to the presence of 'red flags' at clinical evaluation stage, such as early-onset severe atopy, recurrent/atypical infections, and autoimmunity. The diagnostic confirmation requires genetic testing. Precision medicine approaches like biological therapies and HSCT seem to provide promising results. It is worth noting that clinical and translational research in the field of IEIwA is currently paving the way for a more thorough understanding of the molecular bases of common allergic diseases.</p>","PeriodicalId":10956,"journal":{"name":"Current Opinion in Allergy and Clinical Immunology","volume":" ","pages":""},"PeriodicalIF":3.0000,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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.0000000000001059","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ALLERGY","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose of review: Inborn errors of immunity with atopic phenotypes (IEIwA) are a subgroup of IEI that may present with severe and/or multiple atopic clinical manifestations. Because of their specific clinical management and prognosis, it is important to distinguish IEIwA from multifactorial allergic diseases. We aimed to review the main clinical manifestations associated with IEIwA and summarize the available data regarding the precision medicine approach for these conditions.
Recent findings: IEIwA include more than 50 monogenic disorders marked by different immune dysregulation mechanisms such as alterations in cytokine signaling, T cell receptor function, mast cell activation, and skin barrier integrity. A critical role in diagnosis is played by advanced genetic testing. Emerging treatments include targeted monoclonal antibodies and small molecules, whereas hematopoietic stem cell transplantation (HSCT) is still a valid option for some specific disorders and may be curative also on atopic manifestations.
Summary: The recognition and accurate diagnosis of IEIwA are crucial for timely and appropriate therapeutic intervention. The diagnosis should be suspected according to the presence of 'red flags' at clinical evaluation stage, such as early-onset severe atopy, recurrent/atypical infections, and autoimmunity. The diagnostic confirmation requires genetic testing. Precision medicine approaches like biological therapies and HSCT seem to provide promising results. It is worth noting that clinical and translational research in the field of IEIwA is currently paving the way for a more thorough understanding of the molecular bases of common allergic diseases.
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.