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Recurrent Neisseria infections due to factor D deficiency(CFDD)

MedGen UID:
97989
Concept ID:
C0398764
Disease or Syndrome
Synonyms: Complement factor d deficiency; FACTOR D DEFICIENCY
SNOMED CT: Factor D deficiency (234607008)
 
Gene (location): CFD (19p13.3)
 
Monarch Initiative: MONDO:0013487
OMIM®: 613912
Orphanet: ORPHA169467

Definition

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). [from OMIM]

Clinical features

From HPO
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Partial functional complement factor D deficiency
MedGen UID:
870261
Concept ID:
C4024699
Finding
A partial reduction in level of the complement component Factor D in circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecurrent Neisseria infections due to factor D deficiency
Follow this link to review classifications for Recurrent Neisseria infections due to factor D deficiency in Orphanet.

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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