Hereditary, complete deficiency of complement factor H associated with recurrent meningococcal disease

Scand J Immunol. 1989 Dec;30(6):711-8. doi: 10.1111/j.1365-3083.1989.tb02480.x.

Abstract

Complement factor H (beta-1H globulin) is an important regulatory protein which inhibits the spontaneous complement activation via the alternative pathway. We describe a 15-year-old girl without any detectable factor H in plasma. She has had two episodes of meningococcal disease, but is otherwise completely healthy. Secondary to the factor-H deficiency, the levels of factor B, properdin, C3, and C5-C9 were strongly reduced due to spontaneous in vivo activation of the alternative complement pathway. Plasma C3dg was strongly elevated in spite of the factor-H deficiency; apparently erythrocyte CR1 substitutes for factor H in C3 degradation. Neither C3 nor complement lesions were demonstrable on her erythrocytes which did, however, show increased, spontaneous haemolysis in vitro in citrate plasma, but not in serum. The patient is a single child and her parents, who are unrelated and healthy, had half-normal levels of factor H. This reduction of factor H is sufficient to cause increased, spontaneous activation of the alternative pathway.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antibodies, Bacterial / blood
  • Antigen-Antibody Complex / blood
  • Child
  • Complement C3b Inactivator Proteins / deficiency*
  • Complement Factor H
  • Complement Hemolytic Activity Assay
  • Complement System Proteins / deficiency
  • Coombs Test
  • Erythrocytes / ultrastructure
  • Female
  • Humans
  • Immunoelectrophoresis
  • Meningococcal Infections / etiology*
  • Recurrence

Substances

  • Antibodies, Bacterial
  • Antigen-Antibody Complex
  • CFH protein, human
  • Complement C3b Inactivator Proteins
  • Complement Factor H
  • Complement System Proteins