Literature DB >> 1251291

A family with partial and total deficiency of complement C3.

H J Grace, G G Brereton-Stiles, G H Vos, M Schonland.   

Abstract

A young White girl was found to have no detectable complement C3 or C1q. She suffered repeated attacks of pneumococcal meningitis and pneumococcal pneumonia. Her parents, and some of her siblings, had half the normal level of C3; other siblings were normal. She also had decreased IgG levels and increased IgM concentrations. These findings are correlated with a dysmorphic state of the germinal centres of the peripheral lymphoid tissues, seen after death.

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Year:  1976        PMID: 1251291

Source DB:  PubMed          Journal:  S Afr Med J


  4 in total

1.  Homozygous hereditary C3 deficiency due to a premature stop codon.

Authors:  Edimara Da Silva Reis; Gisele Vanessa Baracho; Adriana Sousa Lima; Chuck S Farah; Lourdes Isaac
Journal:  J Clin Immunol       Date:  2002-11       Impact factor: 8.317

2.  Molecular basis of hereditary C3 deficiency.

Authors:  M Botto; K Y Fong; A K So; A Rudge; M J Walport
Journal:  J Clin Invest       Date:  1990-10       Impact factor: 14.808

3.  Homozygous hereditary C3 deficiency due to a partial gene deletion.

Authors:  M Botto; K Y Fong; A K So; R Barlow; R Routier; B J Morley; M J Walport
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-01       Impact factor: 11.205

Review 4.  Structure and expression of the C3 gene.

Authors:  G Fey; H Domdey; K Wiebauer; A S Whitehead; K Odink
Journal:  Springer Semin Immunopathol       Date:  1983
  4 in total

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