Two related cases of primary complement deficiency

Immunol Invest. 2003 Nov;32(4):313-21. doi: 10.1081/imm-120025108.

Abstract

Primary complement deficiencies are rare and two related patients are reported here. The first patient is a 41-year-old man with eighteen episodes of pneumococcal meningitis and other purulent infections. The serum C3 level was checked at three separate times, showing that this was a primary C3 deficient case; other immunological tests were normal. This patient now takes prophylactic antibiotics and the meningitis had not recurred, but he does have glomerulonephritis. The second case is a 40-year-old woman with repeated episodes of orofacial and laryngeal edema and dyspnea. The serum C1INH levels were 4.3 to 7 which is very low compared with normal healthy subjects (C1INH was 40-50 mg/dl) and C4 was lower than normal but other immunological tests were normal. Other causes of angioedema such as lymphoproliferative disorders were excluded. She had hereditary angioedema without a family background. The condition may be due to genetic mutation. The angioedema was controlled with Danazol and Stanasol. As our patients are related, this may suggest a genetic relationship between these two disorders.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anti-Bacterial Agents / therapeutic use
  • Complement C3 / deficiency*
  • Danazol / therapeutic use
  • Dyspnea / complications
  • Edema / complications
  • Edema / drug therapy
  • Female
  • Genetic Diseases, Inborn / blood
  • Genetic Diseases, Inborn / complications
  • Genetic Diseases, Inborn / genetics
  • Glomerulonephritis / complications
  • Humans
  • Male
  • Meningitis, Pneumococcal / complications
  • Meningitis, Pneumococcal / drug therapy
  • Pedigree
  • Stanozolol / therapeutic use

Substances

  • Anti-Bacterial Agents
  • Complement C3
  • Stanozolol
  • Danazol