Hereditary C2 deficiency and systemic lupus erythematosus associated with severe glomerulonephritis.
Although an unusually high incidence of immunological diseases has been described in patients with hereditary C2 deficiency, the severity of these illnesses has been relatively mild, suggesting that blocking complement activation beyond C4 may protect against significant complement-mediated inflammation. This report describes studies in a C2-deficient patient with severe systemic lupus erythematosus (SLE) and diffuse proliferative glomerulonephritis. An immunopathological study of the kidney revealed the deposition of properdin, properdin factor B, C3 and C5 in a pattern similar to immunoglobulin G deposits. Serum properdin and properdin factor B levels were low at various times during the patient's course. In vitro complement fixation studies showed C3 fixation by glomerular deposits could occur via the alternative pathway. Studies of the immune deposits in the patients' skin revealed similar results. These studies suggest that inflammation may be effectively mediated via the alternative complement pathway in the C2 deficiency-lupus syndrome.
D000293:Adolescent; D003175:Complement C2 / Q000172:deficiency* / Q000235:genetics; D003168:Complement Fixation Tests; D005455:Fluorescent Antibody Technique; D005921:Glomerulonephritis / Q000150:complications / Q000276:immunology* / Q000473:pathology; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007668:Kidney / Q000276:immunology / Q000648:ultrastructure; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000276:immunology* / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000276:immunology
D003175:Complement C2; D007136:Immunoglobulins