[Advancements in the Inborn Errors of Immunity]

The immune system is composed of cells, specific biological pathways, and various organs that protect our body from infectious, autoimmune, inflammatory, allergic, or malignant diseases. Any primary or secondary damage to one of the components of the immune system will cause an immune disorder with an increased susceptibility to various diseases in a recurrent or unusual manner. The pathophysiological basis of these primary immune system disorders originate from an underlying genetic defect. Most often, the disorder is characterized by a lack or reduced activity of the immune system, but it may manifest in an excess activity of a particular gene, thereby causing a multisystem clinical disorder. In light of the above, the term "primary immunodeficiency" (PID) was recently replaced by the term "inborn errors of immunity" (IEI). This group currently consists of 559 different clinical conditions that affect different parts of the immune system. The estimated prevalence of congenital diseases of the immune system varies by disease type, but in general, they are not as rare as previously thought and may occur with a prevalence of 1:1,200 in the general population.