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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).

Recent clinical studies

Therapy

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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