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

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  • Additional Information
    • Source:
      Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
    • Publication Information:
      Publication: Amsterdam : Springer
      Original Publication: New York : Plenum, c1981-
    • Subject Terms:
      Genetic Testing/*statistics & numerical data ; Granulomatous Disease, Chronic/*diagnosis ; Prenatal Diagnosis/*statistics & numerical data ; X Chromosome Inactivation/*genetics; Amniotic Fluid/cytology ; Child ; Child, Preschool ; China/epidemiology ; Female ; Flow Cytometry/statistics & numerical data ; Follow-Up Studies ; Granulomatous Disease, Chronic/epidemiology ; Granulomatous Disease, Chronic/genetics ; Humans ; Infant ; Male ; NADPH Oxidase 2/genetics ; Rhodamines/chemistry
    • Abstract:
      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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    • Contributed Indexing:
      Keywords: Chronic granulomatous disease; X inactivation; dihydrorhodamine-1,2,3 assay; gene analysis; prenatal diagnosis
    • Accession Number:
      0 (Rhodamines)
      109244-58-8 (dihydrorhodamine 123)
      EC 1.6.3.- (CYBB protein, human)
      EC 1.6.3.- (NADPH Oxidase 2)
    • Publication Date:
      Date Created: 20190829 Date Completed: 20200721 Latest Revision: 20210110
    • Publication Date:
      20221213
    • Accession Number:
      10.1007/s10875-019-00680-x
    • Accession Number:
      31456102