[Primary immunodeficiency and inherited bone marrow failure syndrome in adults]

Primary immunodeficiency is a group of heterozygous disorders with intrinsic defects in immune cells or molecules associated with immune function. Inherited bone marrow failure syndrome is characterized by at least one defective hematopoietic cell lineage. Clinical symptoms in these patients are usually observed in childhood, but the symptoms may infrequently first occur in adulthood. Although these patients tend to develop autoimmune diseases and cancer in adulthood, recent treatment advances can ensure long-term survival. Therefore, diagnosis should not be delayed, and disease management with a view to lifelong treatment should have a long-term outlook. Therefore, we need to fully understand the pathogenesis of associated underlying complications.