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Chronic granulomatous disease

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


Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of the phagocytes characterized by a greatly increased susceptibility to severe fungal and bacterial infections and manifestating with growth retardation in children, pneumonia, lymphadenitis, liver abscesses, osteomyelitis, skin abscesses or cellulitis, granuloma formation (especially genitourinary and gastrointestinal), colitis and abnormal wound healing.

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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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