
Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies
Author(s) -
Delmonte Ottavia Maria,
Notarangelo Luigi Daniele
Publication year - 2019
Publication title -
medical principles and practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.426
H-Index - 45
eISSN - 1423-0151
pISSN - 1011-7571
DOI - 10.1159/000503997
Subject(s) - review
Primary 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.