IJspeert Hanna, Edwards Emily S J, O'Hehir Robyn E, Dalm Virgil A S H, van Zelm Menno C
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Department of Immunology, School of Translational Medicine, Monash University, Melbourne, Australia; Allergy, Asthma and Clinical Immunology, Alfred Health, Melbourne, Australia; Jeffrey Modell Center, Melbourne, Australia.
J Allergy Clin Immunol. 2025 Mar;155(3):740-751. doi: 10.1016/j.jaci.2024.12.1075. Epub 2024 Dec 24.
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. In a field where fundamental molecular biology, genetics, immune signaling, and clinical care are tightly intertwined, 2022-24 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 coronavirus disease 2019 infection and impact of vaccination, and (4) treatment. Importantly, new pathogenic insights more rapidly affect treatment outcomes, either through an earlier and more precise diagnosis or through implementation of novel, personalized treatment. The field is growing rapidly, so awareness, communication, and collaboration are key to improving treatment outcomes.
自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，在如今被称为遗传性免疫缺陷病的疾病领域，新的见解迅速发展。在一个基础分子生物学、遗传学、免疫信号传导和临床护理紧密交织的领域，2022年至2024年取得了众多进展。在此，我们报告一系列研究进展，主要聚焦于：（1）诊断与筛查；（2）新的基因缺陷；（3）2019年冠状病毒病严重感染的易感性及疫苗接种的影响；（4）治疗。重要的是，新的致病见解通过更早、更精确的诊断或通过实施新的个性化治疗，更快地影响治疗结果。该领域发展迅速，因此提高认识、加强沟通与合作是改善治疗结果的关键。
