Targeted strategies directed at the molecular defect: toward precision medicine for select primary immunodeficiency disorders
LD Notarangelo, TA Fleisher - Journal of Allergy and Clinical Immunology, 2017 - Elsevier
Primary immunodeficiency disorders (PIDs) represent a range of genetically determined
diseases that typically have increased susceptibility to infections and in many cases also
have evidence of immune dysregulation that often presents as autoimmunity. Most recently,
the concept of gain-of-function mutations associated with PIDs has become well recognized
and adds a new dimension to the understanding of this group of disorders, moving beyond
the more commonly seen loss-of-function mutations. The rapidly expanding genetic defects …
diseases that typically have increased susceptibility to infections and in many cases also
have evidence of immune dysregulation that often presents as autoimmunity. Most recently,
the concept of gain-of-function mutations associated with PIDs has become well recognized
and adds a new dimension to the understanding of this group of disorders, moving beyond
the more commonly seen loss-of-function mutations. The rapidly expanding genetic defects …
