Article
Molecular and immunological characterization of DNA ligase IV deficiency.
Clinical immunology (Orlando, Fla.) - 1 Feb 2016
Jiang Jinqiu, Tang Wenjing, An Yunfei, Tang Maozhi, Wu Junfeng, Qin Tao, Zhao Xiaodong
Abstract excerpt
DNA ligase IV (LIG4) deficiency is an extremely rare autosomal recessive primary immunodeficiency disease caused by the LIG4 mutation. To date, fewer than 30 cases of patients have been reported worldwide. No reversion mutations have been previously identified in LIG4. This study enrolled seven Chinese patients with LIG4 deficiency who presented with combined immunodeficiency, microcephaly, and growth...
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