Frontiers in Immunology (Sep 2021)
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population
- Xianze Luo,
- Xianze Luo,
- Xianze Luo,
- Xianze Luo,
- Qing Liu,
- Qing Liu,
- Qing Liu,
- Qing Liu,
- Jinqiu Jiang,
- Jinqiu Jiang,
- Jinqiu Jiang,
- Jinqiu Jiang,
- Wenjing Tang,
- Wenjing Tang,
- Wenjing Tang,
- Wenjing Tang,
- Wenjing Tang,
- Yuan Ding,
- Yuan Ding,
- Yuan Ding,
- Yuan Ding,
- Yuan Ding,
- Lina Zhou,
- Lina Zhou,
- Lina Zhou,
- Lina Zhou,
- Jie Yu,
- Jie Yu,
- Jie Yu,
- Jie Yu,
- Xuemei Tang,
- Xuemei Tang,
- Xuemei Tang,
- Xuemei Tang,
- Xuemei Tang,
- Yunfei An,
- Yunfei An,
- Yunfei An,
- Yunfei An,
- Yunfei An,
- Xiaodong Zhao,
- Xiaodong Zhao,
- Xiaodong Zhao,
- Xiaodong Zhao,
- Xiaodong Zhao
Affiliations
- Xianze Luo
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xianze Luo
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xianze Luo
- China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xianze Luo
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Qing Liu
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Qing Liu
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Qing Liu
- China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Qing Liu
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Jinqiu Jiang
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Jinqiu Jiang
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Jinqiu Jiang
- China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Jinqiu Jiang
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Wenjing Tang
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Wenjing Tang
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Wenjing Tang
- China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Wenjing Tang
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Wenjing Tang
- Department of Rheumatism and Immunology, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yuan Ding
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yuan Ding
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yuan Ding
- China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yuan Ding
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yuan Ding
- Department of Healthy Examination Center, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Lina Zhou
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Lina Zhou
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Lina Zhou
- China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Lina Zhou
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Jie Yu
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Jie Yu
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Jie Yu
- China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Jie Yu
- Department of Hematological Oncology, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xuemei Tang
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xuemei Tang
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xuemei Tang
- China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xuemei Tang
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xuemei Tang
- Department of Rheumatism and Immunology, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yunfei An
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yunfei An
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yunfei An
- China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yunfei An
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yunfei An
- Department of Rheumatism and Immunology, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xiaodong Zhao
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xiaodong Zhao
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xiaodong Zhao
- China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xiaodong Zhao
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xiaodong Zhao
- Department of Rheumatism and Immunology, Children’s Hospital of Chongqing Medical University, Chongqing, China
- DOI
- https://doi.org/10.3389/fimmu.2021.695993
- Journal volume & issue
-
Vol. 12
Abstract
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, and immunological characteristics of 15 Chinese patients with LIG4 deficiency are summarized in detail. p.R278L (c.833G>T) is a unique mutation site present in the majority of Chinese cases. We conducted pedigree and haplotype analyses to examine the founder effect of this mutation site in China. This suggests that implementation of protocols for genetic diagnosis and for genetic counseling of affected pedigrees is essential. Also, the search might help determine the migration pathways of populations with Asian ancestry.
Keywords
