Henry Sutanto, Galih Januar Adytia, Deasy Fetarayani
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引用次数: 0
Abstract
Purpose of review: It seeks to answer key questions about the molecular and cellular mechanisms underlying Hyper IgE Syndrome (HIES), the genetic mutations responsible, and their contributions to both immunodeficiency and allergic manifestations. Additionally, it aims to explore diagnostic strategies and therapeutic approaches that address these overlapping domains, thereby improving disease management.
Recent findings: Recent research has identified several pivotal genetic mutations, including those in STAT3, DOCK8, and PGM3, which play critical roles in disrupting immune pathways such as Th17 differentiation and IgE regulation. These molecular defects have been linked to the hallmark features of HIES, including recurrent infections and elevated serum IgE levels, as well as its overlap with atopic conditions like eczema, asthma, and food allergies. Advances in diagnostic tools, such as biomarker identification and genetic testing, have improved the differentiation of HIES from more common atopic disorders. Therapeutic advancements, including the use of targeted biologics and interventions addressing both immunodeficiency and allergic symptoms, have shown promise in enhancing patient outcomes. This review highlights the role of specific genetic mutations in shaping the clinical and immunological phenotype of HIES. Key takeaways include the necessity of integrating molecular insights with clinical observations for accurate diagnosis and the potential of emerging targeted therapies to address both immunological and allergic aspects of the syndrome.
期刊介绍:
The aim of Current Allergy and Asthma Reports is to systematically provide the views of highly selected experts on current advances in the fields of allergy and asthma and highlight the most important papers recently published. All reviews are intended to facilitate the understanding of new advances in science for better diagnosis, treatment, and prevention of allergy and asthma.
We accomplish this aim by appointing international experts in major subject areas across the discipline to review select topics emphasizing recent developments and highlighting important new papers and emerging concepts. We also provide commentaries from well-known figures in the field, and an Editorial Board of internationally diverse members suggests topics of special interest to their country/region and ensures that topics are current and include emerging research. Over a one- to two-year period, readers are updated on all the major advances in allergy and asthma.