A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing

Background: Patients with severe combined immunodeficiency (SCID), which is caused by genetic defects in immune-related genes involved in the development or activation of the adaptive immune system, often died in infancy due to severe infections before definite molecular diagnosis could be made. Alt...

Full description

Bibliographic Details

Published in:	Journal of Microbiology, Immunology and Infection
Main Authors:	Cheng-Yu Liao, Hui-Wen Yu, Chao-Neng Cheng, Jiann-Shiuh Chen, Ching-Wei Lin, Peng-Chieh Chen, Chi-Chang Shieh
Format:	Article
Language:	English
Published:	Elsevier 2020-02-01
Online Access:	http://www.sciencedirect.com/science/article/pii/S1684118218300495