Inherited deficiency of the third component of human complement (C′3)

Alper, Chester A.; Propp, Richard P.; Klemperer, Martin R.; Rosen, Fred S.; Watson, Lillian

doi:10.1172/jci106013

Cited by 82 publications

(26 citation statements)

References 29 publications

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“…2). A similar mode of inheritance has been observed in human C2 deficiency (3-6, 9) and C3 deficiency (12,14). The heterozygous state in the present kindred can be recognized by specific C6 titration, with heterozygotes having about half-normal functional levels of C6 (Fig.…”

supporting

confidence: 80%

“…An apparently high proportion of individuals with these hereditary C deficiencies have been reported to exhibit rheumatic disorders, renal disease, and autoimmune phenomena (7)(8)(9)(10)(11). Patients with C3 deficiency and abnormalities of C5 function have also been described, and both of these disorders have been associated with increased susceptibility to pyogenic infection (12)(13)(14)(15).…”

mentioning

confidence: 99%

See 1 more Smart Citation

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

Leddy¹,

Frank²,

Gaither³

et al. 1974

J. Clin. Invest.

114

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supporting

confidence: 80%

mentioning

confidence: 99%

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

Leddy¹,

Frank²,

Gaither³

et al. 1974

J. Clin. Invest.

114

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“…The monocytes of nine normal subjects and two C3-deficient patients were studied after obtaining informed consent. The clinical and serological findings in these C3-deficient patients have been reported elsewhere (8)(9)(10). …”

Section: Methodsmentioning

confidence: 65%

“…Deficiency of the third component of complement in man is inherited as an autosomal codominant trait (8)(9)(10)(11).2 Family studies indicated in two kindred that C3 deficiency results from inheritance of a near silent gene (8,12) and metabolic studies of C3 in vivo suggested slight hypercatabolism in homozygous C3 deficients (11, 12) not sufficient to account for the markedly reduced serum C3 concentrations (<1% of normal). In order to study directly the biochemical basis of C3 deficiency, the functional capacities of monocytes from affected patients were compared to monocytes from normal individuals.…”

Section: Introductionmentioning

confidence: 99%

Biosynthesis of the third component of complement (C3) in vitro by monocytes from both normal and homozygous C3-deficient humans.

Einstein¹,

Hansen²,

Ballow³

et al. 1977

J. Clin. Invest.

103

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A B S T R A C T Human monocytes synthesized the third component of complement (C3) up to 5 wk in vitro. Evidence for net C3 synthesis was based on (a) incorporation of 14C-labeled amino acids into C3 protein, (b) identity of the allotype of C3 produced in vitro with that of the doner's serum C3, even in the presence of carrier C3 protein of a different allotype; (c) correspondence of electrophoretic mobility, size, and subunit structure of C3 protein produced in vitro with serum C3; (d) inhibition of C3 production with cycloheximide.Monocytes from two unrelated C3-deficient patients were studied under conditions that supported C3 synthesis by normal monocytes. Serum from each of the patients contained <1% of the normal C3 concentration, but their monocytes produced C3 at -25% of the normal rate when studied after 2 wk in vitro. The C3 produced in vitro by monocytes from one of the patients had the molecular weight of normal serum C3 and dissociated appropriately under reducing conditions. Monocytes from C3-deficient patients could not be distinguished from normals on the basis of morphology, rosetting with C3-coated erythrocytes, or rates of C2, and total protein synthesis.

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“…Studies of C3 polymorphism (1,2) and C3 deficiency established inherited C3 deficiency to be a phenotypic expression of an allele at the C3 structural locus (16). The locus for inherited C2 deficiency was also noted to be closely linked to the HLA region (17,18).…”

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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Inherited deficiency of the third component of human complement (C′3)

Cited by 82 publications

References 29 publications

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

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

Biosynthesis of the third component of complement (C3) in vitro by monocytes from both normal and homozygous C3-deficient humans.

Genetic control of the eighth component of complement.

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