Frontiers in Immunology (Jul 2021)
Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations
- Rongxin Dai,
- Rongxin Dai,
- Rongxin Dai,
- Rongxin Dai,
- Ge Lv,
- Ge Lv,
- Ge Lv,
- Wenyan Li,
- Wenyan Li,
- Wenyan Li,
- Wenjing Tang,
- Wenjing Tang,
- Wenjing Tang,
- Wenjing Tang,
- Junjie Chen,
- Junjie Chen,
- Junjie Chen,
- Qiao Liu,
- Qiao Liu,
- Qiao Liu,
- Lu Yang,
- Lu Yang,
- Lu Yang,
- Min Zhang,
- Min Zhang,
- Min Zhang,
- Zhirui Tian,
- Zhirui Tian,
- Zhirui Tian,
- Lina Zhou,
- Lina Zhou,
- Lina Zhou,
- Xin Yan,
- Xin Yan,
- Xin Yan,
- Xin Yan,
- Yating Wang,
- Yating Wang,
- Yating Wang,
- Yating Wang,
- Yuan Ding,
- Yuan Ding,
- Yuan Ding,
- Yunfei An,
- Yunfei An,
- Yunfei An,
- Yunfei An,
- Zhiyong Zhang,
- Zhiyong Zhang,
- Zhiyong Zhang,
- Zhiyong Zhang,
- Xuemei Tang,
- Xuemei Tang,
- Xuemei Tang,
- Xuemei Tang,
- Xiaodong Zhao,
- Xiaodong Zhao,
- Xiaodong Zhao
Affiliations
- Rongxin Dai
- Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China
- Rongxin Dai
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Rongxin Dai
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Rongxin Dai
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Ge Lv
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Ge Lv
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Ge Lv
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Wenyan Li
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Wenyan Li
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Wenyan Li
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Wenjing Tang
- Department of Rheumatology & Immunology, 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
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Junjie Chen
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Junjie Chen
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Junjie Chen
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Qiao Liu
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Qiao Liu
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Qiao Liu
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Lu Yang
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Lu Yang
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Lu Yang
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Min Zhang
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Min Zhang
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Min Zhang
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Zhirui Tian
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Zhirui Tian
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Zhirui Tian
- Chongqing Key Laboratory of Child Infection and Immunity, 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
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xin Yan
- Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China
- Xin Yan
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xin Yan
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xin Yan
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yating Wang
- Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China
- Yating Wang
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yating Wang
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yating Wang
- Chongqing Key Laboratory of Child Infection and Immunity, 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
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Yunfei An
- Department of Rheumatology & 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
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Zhiyong Zhang
- Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China
- Zhiyong Zhang
- National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Zhiyong Zhang
- Ministry of Education Key Laboratory of Child Development and Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Zhiyong Zhang
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- Xuemei Tang
- Department of Rheumatology & Immunology, 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
- Chongqing Key Laboratory of Child Infection and Immunity, 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
- Chongqing Key Laboratory of Child Infection and Immunity, Children’s Hospital of Chongqing Medical University, Chongqing, China
- DOI
- https://doi.org/10.3389/fimmu.2021.699743
- Journal volume & issue
-
Vol. 12
Abstract
BackgroundSCN4 is an autosomal recessive disease caused by mutations in the G6PC3 gene. The clinical, molecular, and immunological features; function of neutrophils; and prognosis of patients with SCN4 have not been fully elucidated.MethodsTwo Chinese pediatric patients with G6PC3 mutations were enrolled in this study. Clinical data, genetic and immunologic characteristics, and neutrophil function were evaluated in patients and controls before and after granulocyte colony-stimulating factor (G-CSF) treatment.ResultsBoth patients had histories of pneumonia, inguinal hernia, cryptorchidism, and recurrent oral ulcers. Patient 1 also had asthma and otitis media, and patient 2 presented with prominent ectatic superficial veins and inflammatory bowel disease. DNA sequencing demonstrated that both patients harbored heterozygous G6PC3 gene mutations. Spontaneous and FAS-induced neutrophil apoptosis were significantly increased in patients, and improved only slightly after G-CSF treatment, while neutrophil respiratory burst and neutrophil extracellular traps production remained impaired in patients after G-CSF treatment.ConclusionG-CSF treatment is insufficient for patients with SCN4 patients, who remain at risk of infection. Where possible, regular G-CSF treatment, long-term prevention of infection, are the optimal methods for cure of SCN4 patients. It is important to monitor closely for signs of leukemia in SCN4 patients. Once leukemia occurs in SCN4 patients, hematopoietic stem cell transplantation is the most important choice of treatment.
Keywords
