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Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis.

Authors
  • Wang, Shiyu1
  • Wang, Tao1
  • Xiang, Qingqing1
  • Xiao, Min1
  • Cao, Yao1
  • Xu, Huan1
  • Li, Shujuan1
  • Tian, Wen1
  • Zhao, Xiaodong2
  • Tang, Xuemei3
  • Jiang, Liping4
  • 1 Clinical Immunology Laboratory, Pediatric Research Institute, Chongqing Key Laboratory of Child Infection and Immunity, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. , (China)
  • 2 Laboratory Biosafety-2, Pediatric Research Institute, Chongqing Key Laboratory of Child Infection and Immunity, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. , (China)
  • 3 Department of Immunology, Chongqing Key Laboratory of Child Infection and Immunity, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. , (China)
  • 4 Clinical Immunology Laboratory, Pediatric Research Institute, Chongqing Key Laboratory of Child Infection and Immunity, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. [email protected] , (China)
Type
Published Article
Journal
Journal of Clinical Immunology
Publisher
Springer-Verlag
Publication Date
Nov 01, 2019
Volume
39
Issue
8
Pages
762–775
Identifiers
DOI: 10.1007/s10875-019-00680-x
PMID: 31456102
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Chronic granulomatous disease (CGD) is the most common phagocyte defect disease. Here, we describe 114 CGD patients in our center and report a rare female infant with XL-CGD to provide a better understanding of diagnosis, treatment, and prenatal diagnosis of CGD. Patients were diagnosed by DHR-1,2,3 flow cytometry assays and gene analysis. X chromosome inactivation analysis and gp91phox protein test were used for a female infant with XL-CGD. XL-CGD accounts for the majority of cases in China and results in higher susceptibility to some infections than AR-CGD. The DHR assay can help diagnose CGD quickly, and atypical results should be combined with clinical manifestations, genetic analysis, and regular follow-up. For prenatal diagnosis, both gDNA and cDNA genotypes of amniotic fluid cells should be identified, and cord blood DHR assays should be performed to identify female XL-CGD patients.

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