Article
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.
Frontiers in immunology - 1 Jan 2021
Luo Xianze, Liu Qing, Jiang Jinqiu, Tang Wenjing, Ding Yuan, Zhou Lina, Yu Jie, Tang Xuemei, An Yunfei, Zhao Xiaodong
Abstract excerpt
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 immunodeficiency, and a predisposition to autoimmune diseases and malignancy. In this study, the clinical, molecular,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.