Inborn error of immunity—a view from pediatric hematology/oncology

Abstract

Primary immunodeficiency (PID) is a group of diseases caused by the disruption of immune regulation mechanisms such as infection susceptibility, autoimmunity, and auto-inflammation due to abnormalities in genes involved in immune regulation. More than 400 diseases and their responsible genes have been identified. Some of the PIDs are frequently complicated by malignant tumors, especially in lymphoid organs. Some of the genes responsible for PID are also found as somatic mutations in hematological tumors. Therefore, understanding the mechanisms of PID development is important in considering hematological tumorigenesis.