Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Chronic granulomatous disease

Orpha number ORPHA379
Synonym(s) Chronic septic granulomatosis
Prevalence 1-9 / 1 000 000
  • Autosomal recessive
  • X-linked recessive
Age of onset Childhood
  • D71
  • C0018203
  • D006105
  • 10008906
  • 191352003
  • 387759001


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

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.