Journal of Clinical Immunology

, Volume 39, Issue 8, pp 762–775 | Cite as

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

  • Shiyu Wang
  • Tao Wang
  • Qingqing Xiang
  • Min Xiao
  • Yao Cao
  • Huan Xu
  • Shujuan Li
  • Wen Tian
  • Xiaodong Zhao
  • Xuemei Tang
  • Liping JiangEmail author
Original Article



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.


Chronic granulomatous disease dihydrorhodamine-1,2,3 assay gene analysis prenatal diagnosis X inactivation 



We thank the patients and their families for their trust and cooperation.

Funding Source

The study was financially supported by the Development and Application of Rapid Diagnostic Technology for Primary Immunodeficiency Disease Caused by Abnormal Response to BCG Vaccination, Science and Technology Innovation Project of Social Undertaking and People’s Livelihood Guarantee of Chongqing Science and Technology Commission (cstc 2015 shmszx0131).

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 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 DisordersChildren’s Hospital of Chongqing Medical UniversityChongqingChina
  2. 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 DisordersChildren’s Hospital of Chongqing Medical UniversityChongqingChina
  3. 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 DisordersChildren’s Hospital of Chongqing Medical UniversityChongqingChina

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