Precision Medicine as Treatment for Primary Immunodeficiency and Immune Dysregulation

Document Type: Review


1 Department of Pediatric Infectious Diseases and Immunology, Pontificia Universidad Católica de Chile

2 Division of Immunology, Boston Children’s Hospital, Harvard Medical School



“Precision medicine” is the use of therapy that targets the molecular basis of a patient’s disease process. This approach is increasingly well-established in treatment of monogenic disorders of immunity, including primary immunodeficiencies and primary immune regulatory disorders. This is due to the exquisite detail with which many immune pathways have been defined, and the wide variety of immune modulatory medications that target these pathways. Here we review many of the most effective uses of this approach and suggest a framework for classifying these strategies.