Variant Type X91 + Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

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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:
      Granulomatous Disease, Chronic*/diagnosis ; Granulomatous Disease, Chronic*/genetics ; Granulomatous Disease, Chronic*/complications; Humans ; NADPH Oxidases/genetics ; NADPH Oxidases/metabolism ; Membrane Glycoproteins/genetics ; NADPH Oxidase 2/genetics ; Mutation/genetics ; China/epidemiology
    • Abstract:
      Purpose: We aimed to report the clinical and immunological characteristics of variant type X91 + chronic granulomatous disease (CGD) in a Chinese cohort.
      Methods: The clinical manifestations and immunological phenotypes of patients with X91 + CGD were collected. A dihydrorhodamine (DHR) analysis was performed to evaluate neutrophil function. Gp91 phox protein expression was determined using extracellular staining with the monoclonal antibody (mAb) 7D5 and flow cytometry.
      Results: Patients with X91 + CGD accounted for 8% (7/85) of all patients with CGD. The median age of onset in the seven patients with X91 + CGD was 4 months. Six patients received the BCG vaccine, and 50% (3/6) had probable BCG infections. Mycobacterium tuberculosis infection was prominent. The most common sites of infection were the lung (6/7), lymph nodes (5/7), and soft tissue (3/7). Two patients experienced recurrent oral ulcers. The stimulation index (SI) of the patients with X91 + CGD ranged widely from 1.9 to 67.3. The difference in the SI among the three groups of patients (X91 + CGD, X91 - CGD, and X91 0 CGD) was statistically significant (P = 0.0071). The three groups showed no significant differences in onset age, diagnosis age, or severe infection frequency. CYBB mutations associated with X91 + CGD were commonly located in the second transmembrane or intracellular regions. Three novel X91 + CGD-related mutations (c.1462-2 A > T, c.1243C > T, and c.925G > A) were identified.
      Conclusions: Variant type X91 + CGD may result in varied clinical manifestations. Moreover, the laboratory findings might indicate a moderate neutrophil SI. We should deepen our understanding of variant X91 + CGD to prevent missed diagnoses.
      (© 2022. The Author(s).)
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    • Contributed Indexing:
      Keywords: Chronic granulomatous disease; NADPH oxidase; Neutrophil respiratory burst; Stimulation index; gp91phox
    • Accession Number:
      EC 1.6.3.- (NADPH Oxidases)
      0 (Membrane Glycoproteins)
      EC 1.6.3.- (NADPH Oxidase 2)
    • Publication Date:
      Date Created: 20220707 Date Completed: 20221122 Latest Revision: 20221215
    • Publication Date:
      20231215
    • Accession Number:
      PMC9674757
    • Accession Number:
      10.1007/s10875-022-01324-3
    • Accession Number:
      35796921