Primary atopic disorders describes a series of monogenic diseases that have allergy- or atopic effector-related symptoms as a substantial feature. The underlying pathogenic genetic lesions help illustrate fundamental pathways in atopy, opening up diagnostic and therapeutic options for further study in those patients, but ultimately for common allergic diseases as well. Key pathways affected in these disorders include T cell receptor and B cell receptor signaling, cytokine signaling, skin barrier function, and mast cell function, as well as pathways that have not yet been elucidated. While comorbidities such as classically syndromic presentation or immune deficiency are often present, in some cases allergy alone is the presenting symptom, suggesting that commonly encountered allergic diseases exist on a spectrum of monogenic and complex genetic etiologies that are impacted by environmental risk factors.

中文翻译：

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原发性特应性疾病。

原发性特应性疾病中描述了一系列具有变态反应或特应性效应相关的症状是根本特征的单基因疾病。底层致病的遗传病变帮助说明基本途径在遗传性过敏症，在这些患者中开放的诊断和治疗选择用于进一步的研究，但最终为常见的过敏性疾病，以及。影响这些疾病的关键途径包括T细胞受体和B细胞受体信号传导，细胞因子信号传导，皮肤屏障功能和肥大细胞的功能，以及尚未被阐明通路。虽然合并症如经典的病征表现或免疫缺陷经常出现，在某些情况下独自过敏的症状表现，