期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 39, 期 8, 页码 762-775出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-019-00680-x
关键词
Chronic granulomatous disease; dihydrorhodamine-1,2,3 assay; gene analysis; prenatal diagnosis; X inactivation
类别
资金
- 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 S [cstc 2015 shmszx0131]
Purpose 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. Method Patients were diagnosed by DHR-1,2,3 flow cytometry assays and gene analysis. X chromosome inactivation analysis and gp91(phox) protein test were used for a female infant with XL-CGD. Results 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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