There are now more than 450 described monogenic germline mutations for inborn errors of immunity that result in the loss of expression, loss of function (LOF), or gain in function (GOF) of the encoded protein. Molecular characterization of these inborn errors of immunity has not only allowed us to characterize on a genetic basis these immune deficiency disorders but has provided a better understanding of the immunobiology of these inborn errors of immunity. More recently, these advances have allowed us to apply targeted therapy or precision medicine in their treatment. Of particular interest related to this review are those inborn errors of immunity that result in gain-of-function (GOF) genetic abnormalities. Many of these inborn errors of immunity fall into a new category referred to as diseases of immune dysregulation in which many of the patients not only exhibit an increased susceptibility to infection but also have a clinical phenotype associated with autoimmune processes and lymphoproliferative disease.

现在有超过 450 种描述的单基因种系突变用于先天性免疫错误，这些突变导致编码蛋白质的表达丧失、功能丧失 (LOF) 或功能增加 (GOF)。这些先天性免疫缺陷的分子特征不仅使我们能够在遗传基础上表征这些免疫缺陷疾病，而且使我们更好地了解这些先天性免疫缺陷的免疫生物学。最近，这些进步使我们能够在他们的治疗中应用靶向治疗或精准医学。与本综述相关的特别感兴趣的是那些导致功能获得性 (GOF) 遗传异常的先天性免疫错误。