Genetic Testing in Clinical Immunology: What to Know and How to Do It

IF 7.2 1区医学 Q1 ALLERGY

Journal of Allergy and Clinical Immunology-In Practice Pub Date : 2026-10-01 Epub Date: 2026-10-07 DOI:10.1016/j.jaip.2026.06.034

Rui Yang MD, PhD, Ivan K. Chinn MD, Jordan S. Orange MD, PhD, Xiao P. Peng MD, PhD

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引用次数: 0

Abstract

Genetically driven immune diseases are immune-mediated disorders involving germline and/or somatic host genetic changes that make a major contribution to disease pathogenesis. These conditions, which include the inborn errors of immunity, may predispose patients to the development of immunodeficiency, immune dysregulation, atopy, autoinflammation or hyperinflammation, and malignancy. Since the development of massively parallel sequencing, also known as next-generation sequencing, and its introduction into clinical use, clinical genetic testing has expanded exponentially across medical specialties, including clinical immunology, with approximately 28% of patients with suspected genetically driven immune diseases undergoing genetic testing in the United States. Despite rapid uptake, knowledge gaps persist regarding when to order genetic testing, how to choose the appropriate assay, and how to interpret the results in clinical context. In this review, we provide a practical framework for genetic testing strategy and interpretation and discuss current limitations, as well as emerging advances that may help further enhance diagnostic yield and clinical impact.

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临床免疫学中的基因检测：知道什么和如何做

遗传驱动的免疫疾病是免疫介导的疾病，涉及生殖系和/或体细胞宿主的遗传变化，这些变化对疾病的发病机制起主要作用。这些疾病，包括先天免疫缺陷，可能使患者易患免疫缺陷、免疫失调、特应性、自身炎症或高炎症以及恶性肿瘤。自从大规模平行测序（也称为下一代测序）的发展及其临床应用以来，临床基因检测在包括临床免疫学在内的医学专业中呈指数级扩展，在美国大约有28%的疑似遗传驱动的免疫疾病患者接受了基因检测。尽管应用迅速，但关于何时进行基因检测、如何选择合适的检测方法以及如何在临床环境中解释结果等方面的知识差距仍然存在。在这篇综述中，我们为基因检测策略和解释提供了一个实用的框架，并讨论了当前的局限性，以及可能有助于进一步提高诊断率和临床影响的新进展。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Allergy and Clinical Immunology-In Practice ALLERGYIMMUNOLOGY-IMMUNOLOGY

CiteScore

11.10

自引率

9.60%

发文量

683

审稿时长

50 days

期刊介绍： JACI: In Practice is an official publication of the American Academy of Allergy, Asthma & Immunology (AAAAI). It is a companion title to The Journal of Allergy and Clinical Immunology, and it aims to provide timely clinical papers, case reports, and management recommendations to clinical allergists and other physicians dealing with allergic and immunologic diseases in their practice. The mission of JACI: In Practice is to offer valid and impactful information that supports evidence-based clinical decisions in the diagnosis and management of asthma, allergies, immunologic conditions, and related diseases. This journal publishes articles on various conditions treated by allergist-immunologists, including food allergy, respiratory disorders (such as asthma, rhinitis, nasal polyps, sinusitis, cough, ABPA, and hypersensitivity pneumonitis), drug allergy, insect sting allergy, anaphylaxis, dermatologic disorders (such as atopic dermatitis, contact dermatitis, urticaria, angioedema, and HAE), immunodeficiency, autoinflammatory syndromes, eosinophilic disorders, and mast cell disorders. The focus of the journal is on providing cutting-edge clinical information that practitioners can use in their everyday practice or to acquire new knowledge and skills for the benefit of their patients. However, mechanistic or translational studies without immediate or near future clinical relevance, as well as animal studies, are not within the scope of the journal.