title: Clinical manifestations in humans of combined C7 and C4 deficiency associated with low levels of C2, C8, and C9.
abstract: 64 members of a large kindred with inherited deficiency of the seventh component of complement, C7, were studied for plasma levels of antigenetic and functional components of complement as well as for clinical manifestations of infections and autoimmune diseases. Thirty-six individuals showed a low level of C2, C7, C8, and/or C9, including null alleles for C4A and C4B. Two subjects had a complete C7 deficiency. One of them concomitantly presented a low C2 level and a C4BQ0 allele. HLA allotyping strongly suggested C2 depression associated with a C4BQ0 allele. The 2 individuals with total absence of C7 suffered from fulminant disseminated meningococcal infections. The partial depression of one or more complement components associated with apparent good health. These results may indicate that simultaneous partial depressions of up to four complement components do not lead to clinical manifestation of infectious and autoimmune disease.
authors.affiliation: Department of Internal Medicine, University of Bern, Switzerland.
authors.forename: W A
authors.initials: WA
authors.lastname: Wuillemin
authors.forename: P J
authors.initials: PJ
authors.lastname: Späth
authors.forename: B
authors.initials: B
authors.lastname: Uring-Lambert
authors.forename: P W
authors.initials: PW
authors.lastname: Straub
mesh_terms: D000328:Adult; D000483:Alleles; D001327:Autoimmune Diseases / Q000235:genetics*; D001424:Bacterial Infections / Q000235:genetics* / Q000276:immunology; D003165:Complement System Proteins / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D003165:Complement System Proteins