中国大陆慢性肉芽肿病的临床和分子特征及 1 例产前诊断的 XL-CGD 女性婴儿患者
Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis.
机构信息
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.
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.
出版信息
J Clin Immunol. 2019 Nov;39(8):762-775. doi: 10.1007/s10875-019-00680-x. Epub 2019 Aug 27.
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 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.
目的
慢性肉芽肿病（CGD）是最常见的吞噬细胞缺陷病。在此，我们描述了 114 例在本中心就诊的 CGD 患者，并报告了一例罕见的女性婴儿 X 连锁 CGD（XL-CGD）病例，以更好地了解 CGD 的诊断、治疗和产前诊断。
方法
通过 DHR-1、2、3 流式细胞术检测和基因分析对患者进行诊断。采用 X 染色体失活分析和 gp91 蛋白检测对一名女性婴儿进行 XL-CGD 诊断。
结果
XL-CGD 在中国占多数病例，比 AR-CGD 更容易感染某些疾病。DHR 检测可帮助快速诊断 CGD，对于不典型结果，应结合临床表现、基因分析和定期随访。对于产前诊断，应鉴定羊水细胞的 gDNA 和 cDNA 基因型，并对脐血进行 DHR 检测，以鉴定女性 XL-CGD 患者。
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