Two related cases of primary complement deficiency.
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.
Farhoudi
A
A
Department of Allergy and Clinical Immunology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Bazargan
N
N
Pourpak
Z
Z
Mahmoudi
M
M
D000328:Adult; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D003176:Complement C3 / Q000172:deficiency*; D003613:Danazol / Q000627:therapeutic use; D004417:Dyspnea / Q000150:complications; D004487:Edema / Q000150:complications / Q000188:drug therapy; D005260:Female; D030342:Genetic Diseases, Inborn / Q000097:blood / Q000150:complications / Q000235:genetics; D005921:Glomerulonephritis / Q000150:complications; D006801:Humans; D008297:Male; D008586:Meningitis, Pneumococcal / Q000150:complications / Q000188:drug therapy; D010375:Pedigree; D013197:Stanozolol / Q000627:therapeutic use
D000900:Anti-Bacterial Agents; D003176:Complement C3; D013197:Stanozolol; D003613:Danazol