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Inborn errors of immunity manifesting as atopic disorders
Journal of Allergy and Clinical Immunology ( IF 14.2 ) Pub Date : 2021-08-21 , DOI: 10.1016/j.jaci.2021.08.008
Maryam Vaseghi-Shanjani 1 , Kelsey L Smith 2 , Rahnuma J Sara 2 , Bhavi P Modi 2 , Anna Branch 3 , Mehul Sharma 1 , Henry Y Lu 2 , Elliot L James 2 , Kyla J Hildebrand 2 , Catherine M Biggs 2 , Stuart E Turvey 1
Affiliation  

Inborn errors of immunity are traditionally best known for enhancing susceptibility to infections. However, allergic inflammation, among other types of immune dysregulation, occurs frequently in patients with inborn errors of immunity. As such, the term primary atopic disorders (PADs) was recently coined to describe the group of heritable monogenic allergic disorders. It is becoming increasingly important for clinicians to recognize that allergic diseases such as food allergy, atopic dermatitis, and allergic asthma are expressions of misdirected immunity, and in patients who present with severe, early-onset, or coexisting allergic conditions, these can be indications of an underlying PAD. Identifying monogenic allergic disease through next-generation sequencing can dramatically improve outcomes by allowing the use of precision-based therapy targeting the patient’s underlying molecular defect. It is therefore imperative that clinicians recognize PADs to be able to provide informed therapeutic options and improve patient outcomes. Here, we summarize the clinical features commonly seen with each of the currently known PADs, identify clinical warning signs that warrant assessment for PADs, and lastly, discuss the benefits of timely diagnosis and management of these conditions.



中文翻译:

表现为特应性疾病的先天免疫缺陷

传统上,先天性免疫错误以提高对感染的易感性而闻名。然而,过敏性炎症,以及其他类型的免疫失调,经常发生在有先天免疫缺陷的患者身上。因此,术语原发性特应性疾病(PADs) 最近被创造来描述一组可遗传的单基因过敏性疾病。临床医生越来越意识到食物过敏、特应性皮炎和过敏性哮喘等过敏性疾病是免疫误导的表现,对于出现严重、早发或共存过敏性疾病的患者,这些可能是指征底层 PAD。通过使用针对患者潜在分子缺陷的精准疗法,通过下一代测序识别单基因过敏性疾病可以显着改善结果。因此,临床医生必须认识到 PAD 能够提供明智的治疗选择并改善患者的预后。在这里,我们总结了目前已知的每个 PAD 常见的临床特征,

更新日期:2021-08-21
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