Clinical and Molecular Features of 38 Children with Chronic Granulomatous Disease in Mainland China (original) (raw)

Abstract

Purpose

Chronic granulomatous disease (CGD) is an inherited disorder, with phagocytes failing to produce antimicrobial superoxide due to deficient NADPH oxidase activity. Mutations in the gene encoding CYBB are responsible for the majority of the CGD cases. To date, there have been no reports on large samples of children with CGD in China. Therefore, in this study, we described the clinical and molecular features of 38 suspected CGD patients from 36 unrelated Chinese families.

Methods

Clinical diagnosis was performed using dihydrorhodamine assays detected by flow cytometry. Molecular analysis was used to identify underlying CGD-causative genes.

Results

The mean age of onset in our 38 patients was 3.4 months, while the mean age at diagnosis was 31.7 months. Apart from recurrent pneumonia and abscesses, tuberculosis (TB) and Bacille Calmette-Guerin (BCG) infections were notable features in our cohort. Overall, 17 cases died and patient 1 did not participate in the follow-up period . In total, we identified 29 different CYBB gene mutations in 31 patients. We found NCF1 and CYBA mutations in 3 and 2 patients, respectively. In addition, we identified 31 carriers and prenatally diagnosed 4 CGD and 4 healthy fetuses.

Conclusions

The results of our study demonstrate that children with BCG infections or recurrent TB infections should have immune function screening tests performed. Moreover, newborns with family histories of primary immunodeficiency diseases should avoid of BCG vaccination. Molecular analysis is an important tool for identifying patients, carriers, and high-risk CGD fetuses.

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Acknowledgment

This study was supported by grants from Key Project of Chongqing Health Bureau (2012-1-048), the Scientific and technology Committee of Yuzhong District of Chongqing (20110313) and Public Welfare Scientific Research Project of China (201402012). We thank the patients and their family members for their cooperation.

Conflict of interest statement

There was no conflict of interest to declare.

Author information

Authors and Affiliations

  1. Clinical Immunology Laboratory, Children’s Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, No. 136 Zhongshan 2nd Road, Chongqing, 400014, China
    Huan Xu, Wen Tian, Shu-Juan Li, Lu-Ying Zhang, Wei Liu, Xi-Qiang Yang & Li-Ping Jiang
  2. Laboratory Biosafety-2, Children’s Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, No. 136 Zhongshan 2nd Road, Chongqing, 400014, China
    Yao Zhao & Xiao-Dong Zhao
  3. Department of Immunology and Nephrology, Children’s Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, No. 136 Zhongshan 2nd Road, Chongqing, 400014, China
    Zhi-Yong Zhang, Xue-Mei Tang, Mo Wang, Dao-Qi Wu, Ji-Sheng Shi & Yuan Ding

Authors

  1. Huan Xu
  2. Wen Tian
  3. Shu-Juan Li
  4. Lu-Ying Zhang
  5. Wei Liu
  6. Yao Zhao
  7. Zhi-Yong Zhang
  8. Xue-Mei Tang
  9. Mo Wang
  10. Dao-Qi Wu
  11. Ji-Sheng Shi
  12. Yuan Ding
  13. Xiao-Dong Zhao
  14. Xi-Qiang Yang
  15. Li-Ping Jiang

Corresponding author

Correspondence toLi-Ping Jiang.

Additional information

An erratum to this article is available at http://dx.doi.org/10.1007/s10875-016-0352-8.

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Xu, H., Tian, W., Li, SJ. et al. Clinical and Molecular Features of 38 Children with Chronic Granulomatous Disease in Mainland China.J Clin Immunol 34, 633–641 (2014). https://doi.org/10.1007/s10875-014-0061-0

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