Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, Maryland, USA.
Curr Opin Pediatr. 2018 Dec;30(6):848-854. doi: 10.1097/MOP.0000000000000697.
The mechanisms underlying the overlap of, and relationship between, atopy and immunodeficiency are just beginning to be recognized, through the identification of novel genetic conditions and the reexamination of well known primary immunodeficiencies. The present review seeks both to frame the topic and to highlight the most recent literature combining allergy in the context of immunodeficiency.
The true prevalence of atopic disorders in the setting of primary immunodeficiency as a whole is difficult to pinpoint, however there have been recent attempts to measure prevalence. Individual immunodeficiency disorders have been more carefully dissected for atopic disease and the mechanisms underlying the atopic phenotypic, whereas several newly described immune deficiencies because of single gene mutations are highly associated with atopic phenotypes. Finally, a number of novel genetic conditions with atopy being the primary feature, even in the absence of overt immune deficiency, have been described, providing instrumental clues into the diagnostic dilemmas these syndromes create.
Defining and examining diseases with primary features of atopy and infection allow for a better understanding of the interplay between the two in rare disease, and hopefully sheds light on fundamental pathways involved in atopy and host defense in the general population.
目的综述：通过鉴定新的遗传疾病和重新检查已知的原发性免疫缺陷，人们开始认识到特应性和免疫缺陷之间重叠和关系的机制。本综述旨在阐述这一主题，并强调最近将过敏与免疫缺陷结合在一起的文献。
最近发现：尽管最近有人试图测量其整体的特应性疾病的患病率，但在原发性免疫缺陷的背景下，特应性疾病的真实患病率很难确定。已经对个体免疫缺陷疾病进行了更仔细的特应性疾病和特应性表型的机制分析，而由于单基因突变导致的几种新描述的免疫缺陷与特应性表型高度相关。最后，描述了一些具有特应性作为主要特征的新的遗传疾病，甚至在没有明显免疫缺陷的情况下也是如此，为这些综合征造成的诊断难题提供了重要线索。
总结：定义和检查以特应性和感染为主要特征的疾病，可以更好地理解这两种疾病在罕见疾病中的相互作用，并希望为特应性和宿主防御的基本途径在一般人群中提供一些启示。
