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

• DOI: 10.1007/s10875-019-00680-x
• Publication Date: 2019-08-27T23:20:01Z
• Authors: Shiyu Wang; Tao Wang; Qingqing Xiang; Min Xiao; Yao Cao; Huan Xu; Shujuan Li; Wen Tian; Xiaodong Zhao; Xuemei Tang; Liping Jiang
• Keywords: Chronic Granulomatous Disease; Primary Immunodeficiency

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.