Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; email:
Annu Rev Immunol. 2020 Apr 26;38:785-808. doi: 10.1146/annurev-immunol-042718-041553. Epub 2020 Mar 3.
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.
原发性特应性疾病描述了一系列单基因疾病，这些疾病以过敏或特应性效应相关症状为主要特征。潜在的致病遗传病变有助于阐明特应性的基本途径，为这些患者进一步研究提供诊断和治疗选择，但最终也为常见的过敏性疾病提供了选择。受这些疾病影响的关键途径包括 T 细胞受体和 B 细胞受体信号、细胞因子信号、皮肤屏障功能和肥大细胞功能，以及尚未阐明的途径。虽然常伴有合并症，如经典综合征表现或免疫缺陷，但在某些情况下，过敏是唯一的表现症状，这表明常见的过敏性疾病存在于单基因和复杂遗传病因的谱系中，这些病因受到环境危险因素的影响。
