Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies.

Leddy, John P.; Frank, Michael M.; Gaither, Thelma A.; Baum, John; Klemperer, Martin R.

doi:10.1172/jci107588

Cited by 114 publications

(28 citation statements)

References 38 publications

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“…In the present study, the hemostatic functions of a human subject homozygous for C6 deficiency and lacking detectable C6 by functional and immunoprecipitin assays (9) have been found to be within normal limits. The data suggest that, in man, C6 or later complement components do not contribute significantly to normal hemostasis.…”

Section: Methodsmentioning

confidence: 52%

Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis.

Heusinkveld¹,

Leddy²,

Klemperer³

et al. 1974

J. Clin. Invest.

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A BSTR A C T Prompted by previous observations of defective blood clotting in rabbits deficient in the sixth component of complement (C6), an evaluation was made of the hemostatic functions of the homozygous proband of a newly recognized human kindred with hereditary C6 deficiency. This human subject, who had no clinical evidence of a bleeding disorder, exhibited a total lack of C6 by functional and immunoprecipitin assays of serum or plasma.Standard tests of hemostatic function were normal; however, when the whole blood clotting time was measured at 250C in plastic tubes, it was at the upper range of our normal values. In confirmation of this observation, prothrombin consumption, when performed at 370C in plastic tubes, was at the lower range of normal. Inulin and endotoxin, in concentrations shown to cause activation of human complement, had little or no effect on clotting times or prothrombin consumption of normal or C6-deficient human blood.These observations indicate that absence of C6 does not have a significant effect on hemostatic function in man. In the light of other investigations, the observed

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Section: Methodsmentioning

confidence: 52%

Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis.

Heusinkveld¹,

Leddy²,

Klemperer³

et al. 1974

J. Clin. Invest.

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“…In those witlh altered or diminished C3 or C5 activity, opsonlizaItion as well as bactericidal activity mnay vbe imlpaired (51)(52)(53)(54)(55), and suisceptibility to graml-niegative bacteria appears to be increased. Of particular interest is the observation that C6-and C8-deficient patients appear uniquely susceptible to bacteremic gonococcal or' mileninigococcaI] inf'ectionls (56)(57)(58), but 11sually%, lnot to othier-bacterial inifectionls. These individuals possessed normal complement-depenidenit chemiiotaxis aind opsonization, but lacked bactericidal activitv for N. goniorrhloeae in onie instanice (57) anid for Saohiwtella typhi anid H. inifltiewuzae, type B in aniiotlher (56 The bactericidal activity of acuite anid conivalescenit sera from patienits with DGI was equial or suiperior to that of pooled niormial humtaniiii sera for two strainis of serum-sensitive gonococci isolated from patients with uncomplicated gonorrhea (Table VI).…”

Section: Resultsmentioning

confidence: 99%

Gonococci causing disseminated gonococcal infection are resistant to the bactericidal action of normal human sera.

Schoolnik¹,

Buchanan²,

Holmes³

1976

J. Clin. Invest.

219

119

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“…Concordant inheritance of polymorphism of C6 and C7 and of a combined defect of C6 and C7 in families suggests the linkage of C6 and C7 (9,25). Studies of the polymorphism of C4 and the C4-deficiency state have led to the conclusion that C4 is linked to HLA (5-7, 26, 27) and corresponding studies of the relevant proteins that C3 (28), C5 (29,30), C6 (31,32), and C7 (33,34,10) are not closely linked to HLA. Two studies of the relationship of C8 deficiency to HLA in large families have been described (35,13).…”

mentioning

confidence: 99%

Genetic control of the eighth component of complement.

Raum¹,

Spence

Balavitch

et al. 1979

J. Clin. Invest.

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A B S T R A C T Using isoelectric focusing in polyacrylamide gel and a hemolytic assay for development of patterns, extensive structural polymorphism in human C8 has been delineated. Two C8 allotypes have been determined for two previously studied familes, each with a homozygous C8-deficient propositus. This study suggests that C8 deficiency is a silent or null allele of the C8 structural locus, and that half normal levels of C8 cannot be used as a single criterion for the establishment of heterozygous C8 deficiency. C8 allotypes, as well as 18 other autosomal markers, were also determined for 24 familes. The C8 structural locus is not closely linked to these markers, including the human histocompatibility loci complex.

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Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies.

Cited by 114 publications

References 38 publications

Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis.

Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis.

Gonococci causing disseminated gonococcal infection are resistant to the bactericidal action of normal human sera.

Genetic control of the eighth component of complement.

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