Autoimmunity and Primary Immunodeficiency

Recent years have been marked by an increase in the number of gene defects identified among patients with primary immunodeficiency disease and a better appreciation of the mechanisms responsible for the associated impairment in immune regulation. These advances can be translated into an improved identification of patients with primary immune deficiencies and many other immune abnormalities, where polygenic and nongenetic factors might also contribute to the phenotype. Importantly, some of these advances can be used to generate novel immune checkpoint inhibitors and are likely to influence the development of additional immune modifiers that will assist in patients' management.