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Decreased circulating complement C8 concentration

MedGen UID:
462432
Concept ID:
C3151082
Finding
Synonym: C8 deficiency
 
HPO: HP:0004434

Definition

Concentration of the complement component C8 in the blood circulation below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating complement C8 concentration

Conditions with this feature

Type II complement component 8 deficiency
MedGen UID:
462430
Concept ID:
C3151080
Disease or Syndrome
Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984). Two types of inherited C8 deficiency have been reported in humans: type I (613790), in which only C8 alpha (C8A, 120950) and C8 gamma (C8G; 120930) are deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).
Type I complement component 8 deficiency
MedGen UID:
462431
Concept ID:
C3151081
Disease or Syndrome
Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984). Two kinds of inherited C8 deficiency have been reported in humans: type I (C8D1), in which only C8 alpha and C8 gamma (C8G; 120930) are deficient, and type II (C8D2; 613789), in which only C8 beta (C8B; 120960) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

Recent clinical studies

Etiology

Platonov AE, Beloborodov VB, Gabrilovitch DI, Khabarova VV, Serebrovskaya LV
Clin Immunol Immunopathol 1992 Aug;64(2):98-105. doi: 10.1016/0090-1229(92)90186-r. PMID: 1643749

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