Copy number variations and primary immunodeficiency diseases / 国际儿科学杂志

ABSTRACT

Copy number variation (CNV) is an important part of genomic structural variation.Studies have shown that CNV is closely related to the occurrence of diseases,such as neuro-developmental diseases,congenital metabolic diseases and viral infections.Primary immunodeficiency diseases (PIDs) are inheritary disorders in which part of the immune system is missing or has not function normally.With the development of sequencing technology,more and more attention has been paid in the CNV research of immune diseases.This article reviewed the progress between CNV and PIDs,as well as the important role of CNV in the diagnosis of PIDs.