New primary immunodeficiencies 2023 update.

IF 2.2 3区医学 Q2 PEDIATRICS

Current opinion in pediatrics Pub Date : 2024-02-01 Epub Date: 2023-11-25 DOI:10.1097/MOP.0000000000001315

Joyce E Yu

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引用次数: 0

Abstract

Purpose of review: Primary immunodeficiency diseases (PIDs), also called inborn errors of immunity (IEI), are genetic disorders characterized by increased susceptibility to infection and/or aberrant regulation of immunological pathways. This review summarizes and highlights the new IEI disorders in the International Union of Immunological Societies (IUIS) 2022 report and current trends among new PIDs.

Recent findings: Since the 2019 IUIS report and the 2021 IUIS interim update, the IUIS IEI classification now includes 485 validated IEIs. Increasing utilization of genetic testing and advances in the strategic evaluation of genetic variants has continued to drive the identification of, not only novel IEI disorders, but additional genetic etiologies for known IEI disorders and phenotypes.

Summary: The recognition of new IEIs continues to advance at a rapid pace, which is due in part to increased performance and application of genetic modalities as well as expansion of the underlying science that is applied to convincingly establish causality. These disorders, as a whole, continue to emphasize the specificity of immunity, complexity of immune mechanisms, and the fine balance that defines immune homeostasis.

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新的原发性免疫缺陷2023年更新。

综述目的:原发性免疫缺陷疾病(PIDs)，也称为先天性免疫缺陷(IEI)，是一种遗传性疾病，其特征是对感染的易感性增加和/或免疫途径的异常调节。本综述总结并强调了国际免疫学会联合会(IUIS) 2022年报告中新出现的IEI疾病以及新出现的pid的当前趋势。最新发现:自2019年IUIS报告和2021年IUIS中期更新以来，IUIS IEI分类现在包括485个经过验证的IEI。基因检测的日益普及和遗传变异战略评估的进步，不仅推动了对新型IEI疾病的识别，还推动了对已知IEI疾病和表型的其他遗传病因的识别。摘要:对新的iei的认识继续以快速的速度推进，这部分是由于遗传模式的性能和应用的提高，以及用于令人信服地建立因果关系的基础科学的扩展。这些疾病，作为一个整体，继续强调免疫的特异性，免疫机制的复杂性，以及定义免疫稳态的精细平衡。

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

Current opinion in pediatrics 医学-小儿科

CiteScore

6.20

自引率

0.00%

发文量

184

审稿时长

6-12 weeks

期刊介绍： Current Opinion in Pediatrics is a reader-friendly resource which allows the reader to keep up-to-date with the most important advances in the pediatric field. Each issue of Current Opinion in Pediatrics contains three main sections delivering a diverse and comprehensive cover of all key issues related to pediatrics; including genetics, therapeutics and toxicology, adolescent medicine, neonatology and perinatology, and orthopedics. Unique to Current Opinion in Pediatrics is the office pediatrics section which appears in every issue and covers popular topics such as fever, immunization and ADHD. Current Opinion in Pediatrics is an indispensable journal for the busy clinician, researcher or student.