Pathogenic mutations in primary immunodeficiency diseases and their application

Abstract

This application discloses two new pathogenic mutations related to primary immunodeficiency disease and its application. The above two new pathogenic mutations are specifically: 1) c.220T>A mutation located in IL2RG gene; 2) c.141+3A>T mutation located in CYBB gene. The new pathogenic mutation of PID provided by this application provides a new detectable site for the diagnosis and treatment of the disease; at the same time, the above-mentioned relevant mutation of PID can be detected quickly and effectively by using the kit provided by this application.

Description

technical field [0001] The present invention relates to the field of molecular biomedicine, in particular to the pathogenic mutation of primary immunodeficiency disease and its application, specifically, to the nucleic acid, polypeptide, carrier, recombinant cell and related application related to the disease, and also to an energy A kit for detecting pathogenic mutations in primary immunodeficiency disease. Background technique [0002] Primary immunodeficiency disorder (PID) is a type of disease in which genetic mutations occur in the immune system, leading to defects in immune cells and molecular functions. The clinical manifestations are susceptibility to infection, malignant tumors, allergies, inflammation and autoimmune diseases. Due to the rare disease of PID and the complex clinical phenotype, it is difficult for clinicians to diagnose early, so more patients with severe PID die than in the early years; surviving cases often lead to repeated severe infections and oth...

AI Technical Summary

Problems solved by technology

Since PID is a genetically heterogeneous disease with variable clinical phenotypes and many pathogenic genes, there are still many related pathogenic genes and pathogenic mutations that have not been discovered. Therefore, the research work on PID still needs to be further developed.