鉴定由于嵌合引起的免疫基因错误。

IF 12.6 1区医学 Q1 IMMUNOLOGY

Journal of Experimental Medicine Pub Date : 2025-05-05 Epub Date: 2025-04-15 DOI:10.1084/jem.20241045

Elizabeth G Schmitz, Malachi Griffith, Obi L Griffith, Megan A Cooper

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引用次数: 0

摘要

先天性免疫缺陷是免疫系统的单基因紊乱，导致患者免疫缺陷和/或失调。确定疾病的精确遗传原因有助于诊断并促进我们对人类免疫系统的理解；然而，很大一部分患者缺乏分子诊断。体细胞嵌合体，一种细胞亚群的遗传变化，正在成为年轻和老年患者免疫疾病的重要机制。在这里，我们回顾了体细胞免疫遗传错误的现状以及体细胞变异的检测和验证方法。

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Identifying genetic errors of immunity due to mosaicism.

Inborn errors of immunity are monogenic disorders of the immune system that lead to immune deficiency and/or dysregulation in patients. Identification of precise genetic causes of disease aids diagnosis and advances our understanding of the human immune system; however, a significant portion of patients lack a molecular diagnosis. Somatic mosaicism, genetic changes in a subset of cells, is emerging as an important mechanism of immune disease in both young and older patients. Here, we review the current landscape of somatic genetic errors of immunity and methods for the detection and validation of somatic variants.

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来源期刊

Journal of Experimental Medicine 医学-免疫学

CiteScore

26.60

自引率

1.30%

发文量

189

审稿时长

3-8 weeks

期刊介绍： Since its establishment in 1896, the Journal of Experimental Medicine (JEM) has steadfastly pursued the publication of enduring and exceptional studies in medical biology. In an era where numerous publishing groups are introducing specialized journals, we recognize the importance of offering a distinguished platform for studies that seamlessly integrate various disciplines within the pathogenesis field. Our unique editorial system, driven by a commitment to exceptional author service, involves two collaborative groups of editors: professional editors with robust scientific backgrounds and full-time practicing scientists. Each paper undergoes evaluation by at least one editor from both groups before external review. Weekly editorial meetings facilitate comprehensive discussions on papers, incorporating external referee comments, and ensure swift decisions without unnecessary demands for extensive revisions. Encompassing human studies and diverse in vivo experimental models of human disease, our focus within medical biology spans genetics, inflammation, immunity, infectious disease, cancer, vascular biology, metabolic disorders, neuroscience, and stem cell biology. We eagerly welcome reports ranging from atomic-level analyses to clinical interventions that unveil new mechanistic insights.