Inherited deficiency of the ninth component of complement associated with streptococcal infection.
A 7 year old boy, who presented with streptococcal infection, was found to have a low serum complement level (CH50). The C9 component was undetectable. His CH50 rose to the normal value and remained normal for at least three weeks, but decreased to one-third of the normal level three months later. Family studies were consistent with a familial C9 deficiency, with autosomal co-dominant inheritance.
Fujita
M
M
Division of Pediatrics, Tsukuba Gakuen Hospital, Ibaraki, Japan.
Fujita
T
T
Inai
S
S
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003186:Complement C9 / Q000172:deficiency / Q000235:genetics*; D015941:Complement Hemolytic Activity Assay; D005192:Family Health; D030342:Genetic Diseases, Inborn / Q000209:etiology / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D013290:Streptococcal Infections / Q000097:blood* / Q000175:diagnosis / Q000209:etiology
D003186:Complement C9