A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron 4

@article{Stasia2002ANA,
  title={A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron 4},
  author={Marie Jos{\'e} Stasia and Pierre Bordigoni and C{\'e}cile Martel and Françoise Morel},
  journal={Human Genetics},
  year={2002},
  volume={110},
  pages={444-450}
}
Chronic granulomatous disease (CGD) is a rare congenital disorder in which phagocytes cannot generate superoxide (O2 –) and other microbicidal oxidants because of mutations in one of the four components of the O2 –-generating NADPH oxidase complex. A subgroup (approximately 5% of identified CGD patients) has been reported to have mutations in the gene encoding the small p22phox subunit of the flavocytochrome b 558 , the redox element of phagocyte NADPH oxidase. Here, we report the case of an… CONTINUE READING

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