与先天性免疫错误有关的患者的临床表现和免疫改变与不确定意义的遗传变异的关系

IF 4.5 3区医学 Q2 IMMUNOLOGY

Clinical immunology Pub Date : 2025-05-10 DOI:10.1016/j.clim.2025.110513

Samantha Novotny , Noelle Yoo , Jiaye Chen , Michael Granoth , Anita Kohli-Pamnani , Florence Ida Hsu , Mario Rodenas , Ryan Steele , Kelsey Kaman , Gary Soffer , Christina Price , John K. Kuster , Insoo Kang , Lais Osmani , Junghee J. Shin

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引用次数: 0

摘要

尽管在基因检测方面取得了进展，但先天性免疫错误（IEI）仍然是一个诊断挑战，并因不确定意义的遗传变异（VUS）而进一步复杂化。因此，本研究评估了潜在iei受试者的VUS与临床和免疫学特征的关系。VUS被鉴定的基因根据不同的免疫功能聚集在一起。通过SPSS和Python评估基因簇与临床和实验室数据之间的关系。无偏聚类法和人工聚类法均根据基因功能将VUS划分为6个不同的类群。群集显示与独特的临床和/或免疫学特征相关。

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Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity

Despite advances in genetic testing, Inborn Errors of Immunity (IEI) continue to present a diagnostic challenge, further complicated by genetic variants of uncertain significance (VUS). Therefore, this study evaluated associations of VUS with clinical and immunological characteristics in subjects with potential IEIs. Genes for which VUS were identified were clustered by distinct immune functions. Relationships between gene clusters and clinical and laboratory data were evaluated via SPSS and Python. Both unbiased clustering and manual method classified VUS into six distinct groups based on gene function. Clusters showed association with unique clinical and/or immunological profiles.

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来源期刊

Clinical immunology 医学-免疫学

CiteScore

12.30

自引率

1.20%

发文量

212

审稿时长

34 days

期刊介绍： Clinical Immunology publishes original research delving into the molecular and cellular foundations of immunological diseases. Additionally, the journal includes reviews covering timely subjects in basic immunology, along with case reports and letters to the editor.