• Ottavia Maria Delmonte and Luigi Daniele Notarangelo.
• Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
• Med Princ Pract. 2020 Jan 1; 29 (2): 101112101-112.

AbstractPrimary immunodeficiencies are disorders resulting from mutations in genes involved in immune defense and immune regulation. These conditions are characterized by various combinations of recurrent infections, autoimmunity, lymphoproliferation, inflammatory manifestations, and malignancy. In the last 20 years, newborn screening programs and next generation sequencing techniques have increased the ability to diagnose primary immunodeficiencies. Furthermore, an advanced understanding of the molecular basis of these inherited disorders has led to the implementation of targeted therapies that utilize small molecules and biologics to modulate the activity of impaired intracellular pathways. This article will discuss selected primary immunodeficiencies, the genetic defects of which have been recently studied and are amenable to targeted therapy as a reflection of the potential of precision medicine in the future.© 2019 The Author(s) Published by S. Karger AG, Basel.

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