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