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Chronic granulomatous disease

Orpha number ORPHA379
Synonym(s) Chronic septic granulomatosis
Prevalence 1-9 / 1 000 000
Inheritance
  • Autosomal recessive
  • X-linked recessive
Age of onset Childhood
ICD-10
  • D71
OMIM
UMLS
  • C0018203
MeSH
  • D006105
MedDRA
  • 10008906
SNOMED CT
  • 191352003
  • 387759001

Summary

Chronic granulomatous disease is marked by failure to destroy bacteria and fungi phagocytosed by neutrophils and macrophages. The disease affects about 1 in 500,000 people. It is caused by abnormal NADPH oxidase, which produces free oxygen radicals. It can either be an X-linked or an autosomal recessive inherited disease. Four different genetic types have been identified, among which deficiency of the heavy chain in the cytochrome (X-linked) is the most frequent. The main treatment is prevention of bacterial and fungal infections with antibiotics and antifungal agents. In some cases, allogenic haematopoietic stem cell transplantation may be indicated.

Expert reviewer(s)

  • Pr Alain FISCHER

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Detailed information

Article for general public
  • PT (2007,pdf)
  • DE (2007,pdf)
  • EN (2007,pdf)
  • FR (2007,pdf)
  • ES (2007,pdf)
Clinical genetics review
  • EN (2012)
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