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Properdin deficiency

Disease definition

Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.

ORPHA:2966

  • Synonym(s): -
  • Prevalence: -
  • Inheritance: X-linked recessive 
  • Age of onset: -
  • ICD-10: D84.1
  • OMIM: 312060
  • UMLS: C0398762  C1839454
  • MeSH: C537241
  • GARD: 4513
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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