Functional deficiency of complement factor D in a monozygous twin

Clin Exp Immunol. 1984 Dec;58(3):724-30.

Abstract

An adult twin with recurrent bacterial infections was found to have a partial functional deficiency of complement factor D. Full restoration of alternative pathway activity and zymosan- or cobra venom factor-induced consumption of C3 and B was found after reconstitution of patient's serum with purified D. Family studies revealed normal D levels in the mother, a brother and another sister. After gel filtration of patient's sera only little D activity could be detected in the fractions, and trypsin activation of the fractions also did not uncover detectable precursor D activity.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bacterial Infections / genetics
  • Bacterial Infections / immunology*
  • Chromatography, Gel
  • Complement Activating Enzymes / deficiency*
  • Complement Factor D / deficiency*
  • Complement Factor D / genetics
  • Complement Pathway, Alternative
  • Complement System Proteins / analysis
  • Diseases in Twins*
  • Female
  • Humans
  • Pregnancy
  • Recurrence
  • Respiratory Tract Infections / genetics
  • Respiratory Tract Infections / immunology*
  • Twins, Monozygotic

Substances

  • Complement System Proteins
  • Complement Activating Enzymes
  • CFD protein, human
  • Complement Factor D