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 ... 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 man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (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).
In a 24-year-old black woman with 3 episodes of disseminated gonococcal infection, Petersen et al. (1976) found severe deficiency of C8. The proband's parents and children had about half-normal levels of C8.
Jasin (1977) reported the ... In a 24-year-old black woman with 3 episodes of disseminated gonococcal infection, Petersen et al. (1976) found severe deficiency of C8. The proband's parents and children had about half-normal levels of C8. Jasin (1977) reported the case of a 56-year-old black woman with absence of C8 and a disease compatible with SLE. One of 2 brothers had serum levels of C8 approaching 50% of normal. A normal brother was HLA-identical to the proband, whereas the heterozygous brother shared only 1 haplotype with the proband. Thus the C8 gene appeared to be unlinked to HLA. Tedesco et al. (1990) detected a small amount of dysfunctional C8-alpha-gamma in the sera of C8-alpha-gamma deficient patients.
In 2 unrelated Japanese patients with C8 alpha/gamma deficiency, Kojima et al. (1998) screened all 11 exons of the C8A gene and all 7 exons of the C8G gene and their boundaries and identified homozygous or compound heterozygous ... In 2 unrelated Japanese patients with C8 alpha/gamma deficiency, Kojima et al. (1998) screened all 11 exons of the C8A gene and all 7 exons of the C8G gene and their boundaries and identified homozygous or compound heterozygous mutations in the C8A gene (120950.0002-120950.0003). No mutation was found in the C8G gene.
By screening for complement deficiencies in 145,640 blood donors from Osaka and combining their results with reports of 92,686 donors from throughout Japan, Fukumori and Horiuchi (1998) identified 5 individuals with C5 deficiency (609536), 6 individuals with C6 ... By screening for complement deficiencies in 145,640 blood donors from Osaka and combining their results with reports of 92,686 donors from throughout Japan, Fukumori and Horiuchi (1998) identified 5 individuals with C5 deficiency (609536), 6 individuals with C6 deficiency (612446), 17 individuals with C7 deficiency (610102), 5 individuals with C8 alpha/gamma deficiency, and 439 individuals with C9 deficiency (613825). Three C8A mutations in 3 unrelated individuals with C8 alpha/gamma deficiency had been identified, including the splice junction mutation at the exon 2/intron 2 boundary (120950.0002) and the nonsense mutation in exon 9 (120950.0003) reported by Kojima et al. (1998).