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Granulomatous disease, chronic

Orpha number ORPHA379
Prevalence of rare diseases 1-9 / 1 000 000
Inheritance
  • X-linked recessive
  • Autosomal recessive
Age of onset Childhood
ICD 10 code
  • D71
MIM number
Synonym(s) -

Summary

Chronic septic granulomatosis 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. *Author: Pr. A. Fischer (January 2005)*.

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