揭示 STAT 蛋白的免疫遗传学:功能增益和功能缺失变异的临床视角。

IF 2.3 4区 医学 Q3 ALLERGY
Kornvalee Meesilpavikkai, Nattiya Hirankarn, Virgil A S H Dalm, P Martin van Hagen, Willem A Dik, Hanna IJspeert
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引用次数: 0

摘要

信号转导和转录激活蛋白(STAT)在免疫调节中发挥着关键作用。由功能增益(GOF)和功能缺失(LOF)变异引起的这些蛋白的失调已成为一个重要而复杂的研究领域。本综述深入探讨了与 STAT 变异相关的各种临床谱系的复杂细节,以及与这些基因改变相关的免疫学发现。虽然这篇综述不包括每种疾病的治疗方法,但我们讨论了从免疫分型评估到 STAT 蛋白活性评估的各种研究方法。这些研究在确定受影响的患者和了解 STAT 的复杂性方面起着至关重要的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Unraveling the Immunogenetics of STAT Proteins: Clinical Perspectives on Gain-of-Function and Loss-of-Function Variants.

Signal Transducer and Activator of Transcription (STAT) proteins play pivotal roles in immune regulation. The dysregulation of these proteins, attributed to both gain-of-function (GOF) and loss-of-function (LOF) variants, has emerged as a substantial and intricate area of research. This comprehensive review delves into the intricate details of the diverse clinical spectrum associated with STAT variants and the immunological findings linked to these genetic alterations. Although this review does not encompass the treatment of each individual disease, we discuss investigative approaches ranging from immunophenotyping assessment to evaluation of STAT protein activity. These investigations play a crucial role in identifying affected patients and understanding the complexities of STAT.

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来源期刊
CiteScore
12.80
自引率
0.00%
发文量
74
审稿时长
>12 weeks
期刊介绍: The Asian Pacific Journal of Allergy and Immunology (APJAI) is an online open access journal with the recent impact factor (2018) 1.747 APJAI published 4 times per annum (March, June, September, December). Four issues constitute one volume. APJAI publishes original research articles of basic science, clinical science and reviews on various aspects of allergy and immunology. This journal is an official journal of and published by the Allergy, Asthma and Immunology Association, Thailand. The scopes include mechanism, pathogenesis, host-pathogen interaction, host-environment interaction, allergic diseases, immune-mediated diseases, epidemiology, diagnosis, treatment and prevention, immunotherapy, and vaccine. All papers are published in English and are refereed to international standards.
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