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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 (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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