Molecular diagnosis of chronic granulomatous disease.

@article{Roos2014MolecularDO,
  title={Molecular diagnosis of chronic granulomatous disease.},
  author={Dirk Roos and Martin de Boer},
  journal={Clinical and experimental immunology},
  year={2014},
  volume={175 2},
  pages={139-49}
}
Patients with chronic granulomatous disease (CGD) suffer from recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, liver, brain and bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia and Salmonella species. CGD is a rare (∼1:250 000 births) disease caused by mutations in any one of the five components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in… CONTINUE READING
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