Literature DB >> 2702782

A case of hereditary combined deficiency of complement components C6 and C7 in man.

B P Morgan1, J P Vora, A J Bennett, J P Thomas, N Matthews.   

Abstract

Immunological investigation of a patient presenting with candidiasis and toxoplasmosis revealed a combined deficiency of C6 and C7. Deficiency of C6 was total, but small amounts (less than 1 microgram/ml) of apparently normal C7 were present in the serum. All family members (three sibs and both parents) were heterozygous for the combined deficiency. This is only the second reported case of combined homozygous deficiency of the closely linked and immunochemically similar proteins C6 and C7, and only the third kindred in which this defect has been demonstrated.

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Year:  1989        PMID: 2702782      PMCID: PMC1541941     

Source DB:  PubMed          Journal:  Clin Exp Immunol        ISSN: 0009-9104            Impact factor:   4.330


  26 in total

1.  Toxoplasmosis dangerous in complement deficiency.

Authors:  H A Feldman; R Schreiber
Journal:  N Engl J Med       Date:  1977-12-22       Impact factor: 91.245

2.  Family study on the polymorphisms of the sixth and seventh components (C6 and C7) of human complement: linkage and haplotype analyses.

Authors:  K Tokunaga; G Dewald; K Omoto; T Juji
Journal:  Am J Hum Genet       Date:  1986-09       Impact factor: 11.025

3.  Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Authors:  U K Laemmli
Journal:  Nature       Date:  1970-08-15       Impact factor: 49.962

4.  Immunological detection of the sixth complement component (C6) following flat bed polyacrylamide gel isoelectric focusing and electrophoretic transfer to nitrocellulose filters.

Authors:  D B Whitehouse; W Putt
Journal:  Ann Hum Genet       Date:  1983-01       Impact factor: 1.670

Review 5.  Inherited complement component abnormalities.

Authors:  P H Schur
Journal:  Annu Rev Med       Date:  1986       Impact factor: 13.739

6.  Deficiency of the sixth component of complement and susceptibility to Neisseria meningitidis infections: studies in 10 families and five isolated cases.

Authors:  A Orren; P C Potter; R C Cooper; E du Toit
Journal:  Immunology       Date:  1987-10       Impact factor: 7.397

7.  Escherichia coli antibody: a screening test for immunodeficiency.

Authors:  A D Webster; T Efter; G L Asherson
Journal:  Br Med J       Date:  1974-07-06

8.  Arthritis and antinuclear antibodies (ANA) with inherited deficiency of the sixth component of complement (C6).

Authors:  E Reinitz; M Lawrence; B Diamond; H Keiser; C Alper
Journal:  Ann Rheum Dis       Date:  1986-05       Impact factor: 19.103

9.  Characterization of human complement components C6 and C7.

Authors:  R G Discipio; J Gagnon
Journal:  Mol Immunol       Date:  1982-11       Impact factor: 4.407

Review 10.  Inherited deficiencies of complement and complement-related proteins.

Authors:  L F Fries; J J O'Shea; M M Frank
Journal:  Clin Immunol Immunopathol       Date:  1986-07
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  7 in total

1.  Functionally active complement proteins C6 and C7 detected in C6- and C7-deficient individuals.

Authors:  R Würzner; A Orren; P Potter; B P Morgan; D Ponard; P Späth; M Brai; M Schulze; L Happe; O Götze
Journal:  Clin Exp Immunol       Date:  1991-03       Impact factor: 4.330

Review 2.  Infectious diseases associated with complement deficiencies.

Authors:  J E Figueroa; P Densen
Journal:  Clin Microbiol Rev       Date:  1991-07       Impact factor: 26.132

3.  Properties of a low molecular weight complement component C6 found in human subjects with subtotal C6 deficiency.

Authors:  A Orren; R Würzner; P C Potter; B A Fernie; S Coetzee; B P Morgan; P J Lachmann
Journal:  Immunology       Date:  1992-01       Impact factor: 7.397

4.  C6 haplotypes: associations of a Dde I site polymorphism to complement deficiency genes and the Msp I restriction fragment length polymorphism (RFLP)

Authors:  B A Fernie; M J Hobart; G Delbridge; P C Potter; A Orren; P J Lachmann
Journal:  Clin Exp Immunol       Date:  1994-02       Impact factor: 4.330

5.  A component of the medicinal herb ephedra blocks activation in the classical and alternative pathways of complement.

Authors:  M Ling; S J Piddlesden; B P Morgan
Journal:  Clin Exp Immunol       Date:  1995-12       Impact factor: 4.330

6.  C7 M/N protein polymorphism typing applied to inherited deficiencies of human complement proteins C6 and C7.

Authors:  R Würzner; N Rance; P C Potter; M L Hendricks; P J Lachmann; A Orren
Journal:  Clin Exp Immunol       Date:  1992-09       Impact factor: 4.330

7.  Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

Authors:  R Würzner; M J Hobart; B A Fernie; D Mewar; P C Potter; A Orren; P J Lachmann
Journal:  J Clin Invest       Date:  1995-04       Impact factor: 14.808

  7 in total

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