PDF(Pubmed)
Abstract：
Inborn errors of immunity associated with atopy (IEIs-A) are a group of inherited monogenic disorders that occur with immune dysregulation and frequent skin involvement. Several pathways are involved in the pathogenesis of these conditions, including immune system defects, alterations of skin barrier and metabolism perturbations. Current technological improvements and the higher accessibility to genetic testing, recently allowed the identification of novel molecular pathways involved in IEIs-A, also informing on potential tailored therapeutic strategies. Compared to other systemic therapy for skin diseases, biologics have the less toxic and the best tolerated profile in the setting of immune dysregulation. Here, we review IEIs-A with skin involvement focusing on the tailored therapeutic approach according to their pathogenetic mechanism.
摘要：
与特应性（IEI-A）相关的先天性免疫错误是一组遗传性单基因疾病，伴随着免疫失调和频繁的皮肤受累而发生。几种途径涉及这些疾病的发病机理，包括免疫系统缺陷,皮肤屏障和代谢扰动的改变。当前的技术改进和更高的基因检测可及性，最近允许鉴定涉及IEI-A的新分子途径，还告知潜在的定制治疗策略。与其他皮肤疾病的全身治疗相比，在免疫失调的情况下，生物制剂的毒性较小，耐受性最好。这里,我们回顾了IEIs-A的皮肤参与，重点是根据其发病机制量身定制的治疗方法。
