Atopic manifestations of inborn errors of immunity.

IF 3 4区医学 Q2 ALLERGY

Current Opinion in Allergy and Clinical Immunology Pub Date : 2023-12-01 Epub Date: 2023-09-26 DOI:10.1097/ACI.0000000000000943

Laura Sams, Sonali Wijetilleka, Mark Ponsford, Andrew Gennery, Stephen Jolles

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Abstract

Purpose of review: Allergy and atopic features are now well recognized manifestations of many inborn errors of immunity (IEI), and indeed may be the hallmark in some, such as DOCK8 deficiency. In this review, we describe the current IEI associated with atopy, using a comprehensive literature search and updates from the IUIS highlighting clinical clues for underlying IEI such as very early onset of atopic disease or treatment resistance to enable early and accurate genetic diagnosis.

Recent findings: We focus on recently described genes, their categories of pathogenic mechanisms and the expanding range of potential therapies.

Summary: We highlight in this review that patients with very early onset or treatment resistant atopic disorders should be investigated for an IEI, as targeted and effective therapies exist. Early and accurate genetic diagnosis is crucial in this cohort to reduce the burden of disease and mortality.

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先天性免疫错误的特应性表现。

综述目的：过敏和特应性特征现在是许多先天性免疫错误（IEI）的公认表现，事实上可能是某些疾病的标志，如DOCK8缺乏症。在这篇综述中，我们描述了目前与特应性相关的IEI，使用了全面的文献搜索和IUIS的更新，强调了潜在IEI的临床线索，如特应性疾病的早期发病或治疗耐药性，以实现早期准确的基因诊断。最近的发现：我们关注最近描述的基因、它们的致病机制类别以及不断扩大的潜在治疗范围。摘要：我们在这篇综述中强调，由于存在靶向和有效的治疗方法，因此应对发病很早或有治疗耐药性的特应性疾病患者进行IEI调查。早期准确的基因诊断对于减轻疾病负担和死亡率至关重要。

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 Allergy and Clinical Immunology 医学-过敏

CiteScore

5.90

自引率

3.60%

发文量

109

审稿时长

6-12 weeks

期刊介绍： This reader-friendly, bimonthly resource provides a powerful, broad-based perspective on the most important advances from throughout the world literature. Featuring renowned guest editors and focusing exclusively on one to three topics, every issue of Current Opinion in Allergy and Clinical Immunology delivers unvarnished, expert assessments of developments from the previous year. Insightful editorials and on-the-mark invited reviews cover key subjects such as upper airway disease; mechanisms of allergy and adult asthma; paediatric asthma and development of atopy; food and drug allergies; and immunotherapy.