title: Clinical and molecular features of 38 children with chronic granulomatous disease in mainland china.
abstract: OBJECTIVE
  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.
authors.affiliation: 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.
authors.forename: Huan
authors.initials: H
authors.lastname: Xu
authors.forename: Wen
authors.initials: W
authors.lastname: Tian
authors.forename: Shu-Juan
authors.initials: SJ
authors.lastname: Li
authors.forename: Lu-Ying
authors.initials: LY
authors.lastname: Zhang
authors.forename: Wei
authors.initials: W
authors.lastname: Liu
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhao
authors.forename: Zhi-Yong
authors.initials: ZY
authors.lastname: Zhang
authors.forename: Xue-Mei
authors.initials: XM
authors.lastname: Tang
authors.forename: Mo
authors.initials: M
authors.lastname: Wang
authors.forename: Dao-Qi
authors.initials: DQ
authors.lastname: Wu
authors.forename: Ji-Sheng
authors.initials: JS
authors.lastname: Shi
authors.forename: Yuan
authors.initials: Y
authors.lastname: Ding
authors.forename: Xiao-Dong
authors.initials: XD
authors.lastname: Zhao
authors.forename: Xi-Qiang
authors.initials: XQ
authors.lastname: Yang
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Jiang
mesh_terms: D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000453:epidemiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics / Q000378:metabolism*; D011247:Pregnancy; D012306:Risk; D014397:Tuberculosis, Pulmonary / Q000175:diagnosis / Q000453:epidemiology*
chemical_list: D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1