Novel Genetic Discoveries in Primary Immunodeficiency Disorders.

IF 8.4 2区 医学 Q1 ALLERGY Clinical Reviews in Allergy & Immunology Pub Date : 2022-08-01 DOI:10.1007/s12016-021-08881-2
Margaret T Redmond, Rebecca Scherzer, Benjamin T Prince
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引用次数: 4

Abstract

The field of Immunology is one that has undergone great expansion in recent years. With the advent of new diagnostic modalities including a variety of genetic tests (discussed elsewhere in this journal), the ability to diagnose a patient with a primary immunodeficiency disorder (PIDD) has become a more streamlined process. With increased availability of genetic testing for those with suspected or known PIDD, there has been a significant increase in the number of genes associated with this group of disorders. This is of great importance as a misdiagnosis of these rare diseases can lead to a delay in what can be critical treatment options. At times, those options can include life-saving medications or procedures. Presentation of patients with PIDD can vary greatly based on the specific genetic defect and the part(s) of the immune system that is affected by the variation. PIDD disorders lead to varying levels of increased risk of infection ranging from a mild increase such as with selective IgA deficiency to a profound risk with severe combined immunodeficiency. These diseases can also cause a variety of other clinical findings including autoimmunity and gastrointestinal disease.

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原发性免疫缺陷疾病的新基因发现。
免疫学是近年来发展迅速的学科之一。随着新的诊断模式的出现,包括各种基因测试(在本杂志的其他地方讨论),诊断原发性免疫缺陷疾病(PIDD)患者的能力已经成为一个更精简的过程。随着对疑似或已知PIDD患者的基因检测的增加,与这类疾病相关的基因数量显著增加。这一点非常重要,因为对这些罕见疾病的误诊可能导致关键治疗选择的延误。有时,这些选择包括挽救生命的药物或手术。PIDD患者的表现可以根据特定的遗传缺陷和受变异影响的免疫系统的部分而有很大的不同。PIDD疾病导致不同程度的感染风险增加,从轻度增加(如选择性IgA缺乏)到严重联合免疫缺陷的严重风险。这些疾病还可引起各种其他临床表现,包括自身免疫和胃肠道疾病。
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来源期刊
CiteScore
22.30
自引率
1.10%
发文量
58
审稿时长
6-12 weeks
期刊介绍: Clinical Reviews in Allergy & Immunology is a scholarly journal that focuses on the advancement of clinical management in allergic and immunologic diseases. The journal publishes both scholarly reviews and experimental papers that address the current state of managing these diseases, placing new data into perspective. Each issue of the journal is dedicated to a specific theme of critical importance to allergists and immunologists, aiming to provide a comprehensive understanding of the subject matter for a wide readership. The journal is particularly helpful in explaining how novel data impacts clinical management, along with advancements such as standardized protocols for allergy skin testing and challenge procedures, as well as improved understanding of cell biology. Ultimately, the journal aims to contribute to the improvement of care and management for patients with immune-mediated diseases.
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