Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE)

Clin Exp Immunol. 1993 Nov;94(2):267-72. doi: 10.1111/j.1365-2249.1993.tb03442.x.

Abstract

A complete functional deficiency of C1q is described in a patient suffering from SLE. From reduced plasma C1 activity of the parents a hereditary trait was assumed. The defective C1q molecule was haemolytically inactive, did not bind to immune complexes, and was not recognized by the monocyte C1q receptor. C1 activity in the patient's serum could be restored by the addition of purified C1q. Analysis by gel-filtration and ultracentrifugation experiments revealed an immunoreactive molecule of about 150 kD mol. wt, corresponding to one structural subunit of the C1q macromolecule, containing two A chain-B chain dimers and a C-C chain dimer. Applying Southern blot analysis with cDNA clones encoding for the three individual chains of the C1q molecule, no restriction fragment length polymorphism was detected, ruling out possible major alterations of the genetic information.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carrier Proteins
  • Complement C1q / chemistry
  • Complement C1q / deficiency*
  • Complement C1q / genetics
  • DNA / genetics
  • Female
  • Humans
  • Hyaluronan Receptors*
  • In Vitro Techniques
  • Lupus Erythematosus, Systemic / genetics
  • Lupus Erythematosus, Systemic / immunology*
  • Membrane Glycoproteins*
  • Mitochondrial Proteins
  • Molecular Weight
  • Polymorphism, Restriction Fragment Length
  • Precipitin Tests
  • Receptors, Complement / metabolism

Substances

  • C1QBP protein, human
  • Carrier Proteins
  • Hyaluronan Receptors
  • Membrane Glycoproteins
  • Mitochondrial Proteins
  • Receptors, Complement
  • complement 1q receptor
  • Complement C1q
  • DNA