Management of the child with primary immunodeficiency.

PURPOSE OF REVIEW: The purpose of this review is to provide an update on monitoring, prevention, and treatment of infectious and noninfectious complications of phagocytic, humoral, and cellular immune deficiencies.

RECENT FINDINGS: The recognition that immune dysregulatory features are hallmarks of many genetic defects leading to immune deficiency have led to a new name for all congenital disorders that primarily impact immune function - inborn errors of immunity (IEI). While controlling infections is critical for treatment of patients with IEI, recognition and management of noninfectious complications should also be a focus of comprehensive management of these conditions. Major advances in use of definitive therapies including hematopoietic stem cell transplant, gene therapy, and gene editing have allowed for improved outcomes in cellular and phagocytic immune defects.

SUMMARY: There are now over 550 identified IEI, and effective management of these conditions requires a multidisciplinary approach to monitoring, preventing, and treating both infectious and noninfectious complications of IEI.