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Partial functional complement factor D deficiency

MedGen UID:
870261
•Concept ID:
C4024699
•
Finding
Synonyms: Partial functional adipsin deficiency; Partial functional factor d deficiency
 
HPO: HP:0008338

Definition

A partial reduction in level of the complement component Factor D in circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPartial functional complement factor D deficiency

Conditions with this feature

Recurrent Neisseria infections due to factor D deficiency
MedGen UID:
97989
•Concept ID:
C0398764
•
Disease or Syndrome
Complement factor D deficiency is an autosomal recessive immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway (summary by Biesma et al., 2001).
See: Condition Record
Recurrent Neisseria infections due to factor D deficiency

Recent clinical studies

Therapy

Complete and partial deficiencies of complement factor D in a Dutch family.
Hiemstra PS, Langeler E, Compier B, Keepers Y, Leijh PC, van den Barselaar MT, Overbosch D, Daha MR
J Clin Invest 1989 Dec;84(6):1957-61. doi: 10.1172/JCI114384. PMID: 2687330Free PMC Article

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