期刊
MEDICAL PRINCIPLES AND PRACTICE
卷 29, 期 2, 页码 101-112出版社
KARGER
DOI: 10.1159/000503997
关键词
Primary immunodeficiency diseases; Immunodysregulation; Combined immunodeficiency; Precision medicine; Monoclonal antibody; Small molecule inhibitor
资金
- Division of Intramural Research, National Institutes of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [ZIAAI001222] Funding Source: NIH RePORTER
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.
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