Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population

Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population

DNA ligase IV (LIG4) deficiency is an extremely rare autosomal recessive primary immunodeficiency disease caused by mutations in LIG4. Patients suffer from a broad spectrum of clinical problems, including microcephaly, growth retardation, developmental delay, dysmorphic facial features, combined imm...

Full description

Bibliographic Details
Main Authors: Xianze Luo, Qing Liu, Jinqiu Jiang, Wenjing Tang, Yuan Ding, Lina Zhou, Jie Yu, Xuemei Tang, Yunfei An, Xiaodong Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Immunology
Subjects:
LIG4 deficiency
primary immunodeficiency disease
founder effect
haplotypes
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.695993/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2021.695993/full

Similar Items