Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


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

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.


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