›› 2018, Vol. 36 ›› Issue (7): 533-.doi: 10.3969/j.issn.1000-3606.2018.07.014

Previous Articles     Next Articles

Clinical characteristics and gene mutation analysis of chronic granulomatous disease caused by NCF2 in children

  LIU Min, SU Jun, WANG Qi   

  1. Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450000, Henan, China
  • Received:2018-07-15 Online:2018-07-15 Published:2018-07-15

Abstract:  Objective To explore the clinical characteristics and gene analysis of chronic granuloma caused by NCF2 gene mutation in children. Method The clinical data and gene detection results of one child who was diagnosed with chronic granulomatosis due to multiple nodules in the lungs were analyzed retrospectively, and the related literature were reviewed. Results The female baby was found to have multiple round nodules in her lungs by chest CT due to respiratory infection symptoms 20 days after birth. Neutrophil activation and stimulation test showed no activation of granulocyte. Gene sequencing showed homozygous mutation of NCF2 gene, c.233G>A; p. (Gly78Glu). And the diagnosis of chronic granulomatosis was made. Conclusion For children who had recurrent infection and multiple pulmonary nodules without obvious inducements, and normal levels of immunoglobulin and lymphocyte subsets, chronic granuloma should be considered. Neutrophil activation and stimulation test is helpful for diagnosis, and the final diagnosis depends on gene detection.