关于先天免疫缺陷的最新情况。

IF 11.4 1区 医学 Q1 ALLERGY Journal of Allergy and Clinical Immunology Pub Date : 2024-12-24 DOI:10.1016/j.jaci.2024.12.1075
Hanna IJspeert,Emily S J Edwards,Robyn E O'Hehir,Virgil A S H Dalm,Menno C van Zelm
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引用次数: 0

摘要

自从1952年首次描述一名患有丙种球蛋白缺乏症的男孩的遗传性免疫缺陷以来,在现在被称为先天性免疫缺陷(IEI)的疾病中,新的见解取得了迅速进展。在基础分子生物学、遗传学、免疫信号和临床护理紧密交织的领域,2022-2024年取得了许多进展。在这里,我们报告了一些研究进展,主要集中在(1)诊断和筛查,(2)新的遗传缺陷,(3)对COVID-19严重感染的易感性和疫苗接种的影响,以及(4)治疗。重要的是,无论是通过更早、更精确的诊断,还是通过实施新的个性化治疗,新的致病见解都能更快地影响治疗结果。随着该领域的迅速发展,意识、沟通和合作是改善治疗结果的关键。
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Update on inborn errors of immunity.
Ever since the first description of an inherited immunodeficiency in 1952 in a boy with gammaglobulin deficiency, new insights have progressed rapidly in disorders that are now referred to as inborn errors of immunity (IEI). In a field where fundamental molecular biology, genetics, immune signaling and clinical care are tightly intertwined, 2022-2024 saw a multitude of advances. Here we report a selection of research updates with a main focus on (1) diagnosis and screening, (2) new genetic defects, (3) susceptibility to severe COVID-19 infection and impact of vaccination, and (4) treatment. Importantly, new pathogenic insights more rapidly impact on treatment outcomes, either through an earlier and more precise diagnosis, or through implementation of novel, personalized treatment. As the field is growing rapidly, awareness, communication and collaboration are key to improving treatment outcomes.
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来源期刊
CiteScore
25.90
自引率
7.70%
发文量
1302
审稿时长
38 days
期刊介绍: The Journal of Allergy and Clinical Immunology is a prestigious publication that features groundbreaking research in the fields of Allergy, Asthma, and Immunology. This influential journal publishes high-impact research papers that explore various topics, including asthma, food allergy, allergic rhinitis, atopic dermatitis, primary immune deficiencies, occupational and environmental allergy, and other allergic and immunologic diseases. The articles not only report on clinical trials and mechanistic studies but also provide insights into novel therapies, underlying mechanisms, and important discoveries that contribute to our understanding of these diseases. By sharing this valuable information, the journal aims to enhance the diagnosis and management of patients in the future.
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