COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II

General Information (adopted from Orphanet):

Synonyms, Signs: C8B DEFICIENCY
C8 DEFICIENCY, TYPE II
C8 BETA DEFICIENCY
COMPLEMENT COMPONENT 8B DEFICIENCY
C8D2
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613789
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001287) Meningitis 46 / 7739
2
 (HPO:0005430) Recurrent Neisserial infections 2 / 7739
3
 (HPO:0004434) C8 deficiency 2 / 7739
4
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
 (OMIM) Antigenically defective C8 detected 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Wulffraat et al. (1994) described a family in which a 13-year-old boy was found to be homozygous for C8B deficiency and to have juvenile chronic arthritis of 6 months' duration. Antinuclear antibodies, anti-double-stranded DNA antibodies, and rheumatoid factor ...
Molecular genetics OMIM Raum et al. (1979) used serum from patients with type I deficiency (which lacks alpha-gamma chains but has normal beta chains) to raise antisera against beta C8 and to demonstrate polymorphism thereof.

By direct sequence analysis ...
Population genetics OMIM Ross and Densen (1984) stated that C8B deficiency had been reported exclusively in Caucasians (12 kindreds), and that C8AG deficiency had been found in 4 Black families, 1 Hispanic family, and no Caucasian families.

Saucedo et ...