Primary atopic disorders: inborn errors of immunity causing severe allergic disease

IF 6.6 2区医学 Q1 IMMUNOLOGY

Current Opinion in Immunology Pub Date : 2025-02-27 DOI:10.1016/j.coi.2025.102538

Maryam Vaseghi-Shanjani , Simran Samra , Pariya Yousefi , Catherine M Biggs , Stuart E Turvey

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Abstract

Allergic diseases, including asthma, allergic rhinitis, atopic dermatitis, and food allergies, are driven by dysregulated immune responses, often involving IgE-mediated mast cell and basophil activation, Th2 inflammation, and epithelial dysfunction. While environmental factors are well-known contributors, the genetic components underpinning these conditions are increasingly understood. Traditionally viewed as polygenic multifactorial disorders, allergic diseases can also be caused by single-gene defects affecting the immune system and skin epithelial barrier, leading to profoundly dysregulated allergic responses. These monogenic allergic disorders are collectively referred to as primary atopic disorders or PADs. To date, over 48 single-gene defects have been established to cause PADs. This review highlights (i) the significance of PADs, (ii) the biological pathways involved in the pathogenesis of PADs, (iii) clinical strategies to differentiate PADs from their much more common polygenic counterparts, and (iv) diagnostic strategies for PADs.

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来源期刊

Current Opinion in Immunology 医学-免疫学

CiteScore

13.30

自引率

1.40%

发文量

审稿时长

67 days

期刊介绍： Current Opinion in Immunology aims to stimulate scientifically grounded, interdisciplinary, multi-scale debate and exchange of ideas. It contains polished, concise and timely reviews and opinions, with particular emphasis on those articles published in the past two years. In addition to describing recent trends, the authors are encouraged to give their subjective opinion of the topics discussed. In Current Opinion in Immunology we help the reader by providing in a systematic manner: 1. The views of experts on current advances in their field in a clear and readable form. 2. Evaluations of the most interesting papers, annotated by experts, from the great wealth of original publications. Current Opinion in Immunology will serve as an invaluable source of information for researchers, lecturers, teachers, professionals, policy makers and students. Current Opinion in Immunology builds on Elsevier''s reputation for excellence in scientific publishing and long-standing commitment to communicating reproducible biomedical research targeted at improving human health. It is a companion to the new Gold Open Access journal Current Research in Immunology and is part of the Current Opinion and Research(CO+RE) suite of journals. All CO+RE journals leverage the Current Opinion legacy-of editorial excellence, high-impact, and global reach-to ensure they are a widely read resource that is integral to scientists'' workflow.