[Laboratory diagnosis of chronic granulomatous disease]
1Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai 201102, China.
Insights
Flow cytometric-dihydrorhodamine 123 (DHR) analysis and gp91 protein detection aid in diagnosing chronic granulomatous disease (CGD). Combining functional, protein, and genetic analyses ensures precise CGD diagnosis.
Area of Science:
- Immunology
- Genetics
- Clinical Diagnostics
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by impaired phagocyte function.
- Accurate diagnosis is crucial for effective management and treatment of CGD.
Purpose of the Study:
- To evaluate the diagnostic efficacy of flow cytometric-dihydrorhodamine 123 (DHR) analysis, gp91 protein detection, and gene mutation analysis for CGD.
- To explore the relationships among these diagnostic methods in CGD patients.
Main Methods:
- Retrospective review of clinical and laboratory data from 138 CGD patients confirmed by gene mutation analysis.
- Analysis of respiratory burst (DHR assay), gp91 protein levels, and gene mutations (CYBB, CYBA, NCF1, NCF2).
Main Results:
- CYBB gene mutations were most common (89.1%), followed by CYBA (2.9%), NCF1 (3.6%), and NCF2 (4.4%).
- Significant differences in stimulatory index (SI) were observed between patients with different mutations and gp91 protein expression levels.
- Six novel mutations were identified across CYBB and NCF2 genes.
Conclusions:
- Flow cytometric-DHR analysis and gp91 protein detection are valuable tools for precise CGD diagnosis.
- CGD diagnosis can be enhanced by integrating functional, protein, and genetic analyses.
- Mutation type and gene locus influence respiratory burst function and gp91 protein levels in CGD.
Objective:
To evaluate the methods of flow cytometric-dihydrorhodamine 123 (DHR) analysis, gp91 protein detection, gene mutation analysis for the precise diagnosis of chronic granulomatous disease (CGD).
Method:
Clinical and laboratory data of patients with CGD confirmed by gene mutation analysis from 2008 to 2015 in Children's Hospital of Fudan University were retrospectively reviewed.The results of respiratory burst, gp91 protein level, and gene mutations were analyzed.The relationships among these three methods were explored.
Result:
A total of 138 patients of CGD with confirmed gene mutation were included in this study, of them, 123 cases(89.1%) had CYBB gene mutation, 4 cases(2.9%) had CYBA mutation, 5 cases(3.6%) had NCF1 mutation and 6 cases(4.4%) had NCF2 mutation.The range of stimulatory index (SI) was 0.8-60.5, the 25 th, 50 th, 75th percent was 1.7, 2.7, 4.7; 112 cases had the results of gp91, of them, 100 with gp91(0,) 2 with gp91(-), and 10 with gp91(+) . Six mutations, which were not reported before, were c. 76-77delTT, c. 343-344delCA, c. 481A>T, c. 1152G>C, c. 1613G>A for CYBB gene, and c. 137T>G for NCF2 gene. Among CGD patients with CYBB mutation, SI of patients with gp91(+) was higher than patients with gp91(0) 14.6 vs. 2.5(t=44.21, P=0.004). Patients of NCF1 mutation had higher SI than patients with CYBB mutation, 17.7 vs. 2.5 (t=60.8, P=0.003).
Conclusion:
Flow cytometric-DHR analysis and gp91 protein detection are important diagnostic methods for CGD, they could help the precise diagnosis of CGD.Different mutation types, different mutation genes could have impact on the results of respiratory burst and gp91 level.The application of diagnostic technology from function, protein to gene analysis could help precise diagnosis of CGD.
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