A Lupus‐Like Syndrome in a Patient with Deficiency of the Sixth Component of Complement

Tedesco, Francesco; Silvani, Carlo; Agelli, Maria; Giovanetti, Anna; Bombardieri, Stefano

doi:10.1002/art.1780241119

Cited by 16 publications

(4 citation statements)

References 9 publications

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“…Three of our patients presented with autoimmune diseases and no documented episode of meningococcaemia. Whether individual patients with C6 deficiency have been reported as suffering from systemic [19] or discoid lupus erythematosus [20], Sjögren's syndrome [20] and arthritis with antinuclear antibodies [21], no association of C6 deficiency with SLE has been found, as discussed previously [22]. Screening of large populations has also revealed the existence of asymptomatic C6‐deficient individuals [6,12].…”

Section: Discussionmentioning

confidence: 99%

Restricted genetic defects underlie human complement C6 deficiency

Dragon-Durey

Frémeaux‐Bacchi

Blouin

et al. 2003

Clinical and Experimental Immunology

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SUMMARY Complement C6 homozygous deficiency (C6D) has been rarely observed in Caucasians but was reported at higher prevalence among African‐Americans. We report on the molecular basis of C6D in seven unrelated black individuals of North or Central Africa descent who live in France. These patients have presented Neisseria meningitidis infection (four cases), focal and segmental glomerulosclerosis with hyalinosis (one case), systemic lupus erythematosus (one case) or Still's disease (one case). All patients exhibited undetectable antigenic C6 by using a sensitive ELISA assay. An additional four cases of complete C6 deficiency with no associated disease have been characterized after family studies. Exons 6, 7 and 12 have been described recently as the location of molecular defects on the C6 gene in randomly chosen black Americans. Genomic DNA from the seven patients were subjected to direct polymerase chain reaction amplification of these three exons. Nucleotide sequencing analysis of the amplified DNA fragments revealed a homozygous single‐base deletion (1936delG) in exon 12 in three cases and four compound heterozygous deletions for a single base in exon 7 (1195delC) or in exon 6 (878delA) associated with the same deletion in exon 12 (1936delG). Our observations further establish the restricted pattern of genetic defects associated with homozygous C6 complement deficiency in individuals of African descent.

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Section: Discussionmentioning

confidence: 99%

Restricted genetic defects underlie human complement C6 deficiency

Dragon-Durey

Frémeaux‐Bacchi

Blouin

et al. 2003

Clinical and Experimental Immunology

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“…Human sera with selective deficiencies of C5 (14), C6 (22), and C8 (20) were used to prepare the bacterial intermediates (BACs) BAC1-3, BAC1-5, and BAC1-7, respectively. Pooled human sera treated with KSCN and hydrazine hydrate (3) were used as the reagent providing functionally active C6, C7, C8, and C9.…”

Section: Methodsmentioning

confidence: 99%

Bactericidal-activities of human polymorphonuclear leukocyte proteins against Escherichia coli O111:B4 coated with C5 or C8

Tedesco¹,

Rottini²,

Roncelli³

et al. 1986

Infect Immun

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The postnuclear supernatant of disrupted polymorphonuclear leukocytes exhibited bactericidal activity on Escherichia coli O111:B4 coated with immunoglobulin M antibodies and C5 or C8 but not on C3or C7-coated bacteria. To characterize this antimicrobial activity further, granules obtained from the postnuclear supernatant were extracted with sodium acetate (pH 4) and the soluble extract was subsequently fractionated through carboxymethyl cellulose and Sephacryl S-200. Over 90% of the activity present in the starting material was recovered in the soluble granule extract. Kinetic and dose-response analyses of the bactericidal activity of the polymorphonuclear leukocyte extract on BAC1-5 and BAC1-8 revealed different susceptibilities to killing of these two bacterial intermediates; they also differed for their susceptibilities to killing at 37°C and at room temperature. The suggestion raised by these data, that BACl-5 and BAC1-8 could be killed by different bactericidal factors, was confirmed by the findings that separate fractions of the soluble granule extract obtained by carboxymethyl cellulose and Sephacryl S-200 chromatography exhibited specific activity on either BAC1-5 or BAC1-8, whereas other fractions were active on both intermediates.

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“…The C5-deficient serum was a generous gift from P. Densen (University of Iowa Hospitals and Clinics, Iowa City, Iowa) and was obtained from a patient with recurrent meningococcal infections. The patients providing the C6and C8deficient sera have been reported previously (19,22). All sera had a selected complement deficiency with normal or slightly reduced levels of all other components.…”

Section: Methodsmentioning

confidence: 99%

Kinetics of assembly and decay of complement components on Escherichia coli O111:B4 preparation of stable intermediates

Rottini¹,

Tedesco²,

Basaglia³

et al. 1985

Infect Immun

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The preparation of bacterial intermediates bearing complement components at various steps of the complement sequence was investigated by suspending immunoglobulin M-opsonized Escherichia coli Oll1:B4 cells in complement-deficient sera at different temperatures and ionic strengths. The optimal conditions for the formation of the intermediates at T,n were found to be an ionic strength of 0.091 , and a temperature of 37°C, except for BAC142, which could be formed equally well at room temperature. In contrast to all the other intermediates, which, once formed at Tmax, were stable in the presence of the whole serum, BAC142 decayed with a half-life of 10 min due to the lability of bound C2. Washing with a buffer of either 0.091 or 0.046 ,u did not affect the bacterial intermediates, with the exception of BAC1-3 formed either in the presence of CS-deficient serum or with purified C3 added to BAC142. All the intermediates were found to be stable after incubation in 0.091-,u buffer for 30 min at 37°C.

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A Lupus‐Like Syndrome in a Patient with Deficiency of the Sixth Component of Complement

Cited by 16 publications

References 9 publications

Restricted genetic defects underlie human complement C6 deficiency

Restricted genetic defects underlie human complement C6 deficiency

Bactericidal-activities of human polymorphonuclear leukocyte proteins against Escherichia coli O111:B4 coated with C5 or C8

Kinetics of assembly and decay of complement components on Escherichia coli O111:B4 preparation of stable intermediates

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