Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections.
High incidence of hereditary complement (C) deficiencies was found among 101 patients who had a meningococcal disease. This study revealed 11 non-related patients with complete C deficiency: five deficient in C7, three in C8, two in properdin and one in C2. Additional C-deficient individuals, most of them with no history of severe bacterial infections, were detected in family studies. The C8-deficient patients were found to have a selective deficiency of the C8-beta subunit and a reduced expression of the alpha/gamma subunit. Only a few families with properdin deficiency have been described so far. However, it is likely that frequent analysis of the activity of the alternative C pathway in survivors of severe bacterial infections will disclose numerous properdin-deficient patients. All our C7-, C8- and properdin-deficient patients are Sephardic Jews whose families originated from Morocco, Yemen (C7 and C8 deficient) or Tunisia (properdin deficient). This and other findings indicate that the type of complement abnormality found in association with meningococcal infections varies with the ethnic origin of the patient.
Schlesinger
M
M
Department of Paediatrics and Clinical Immunology, Barzilai Medical Centre, Ashkelon, Israel.
Nave
Z
Z
Levy
Y
Y
Slater
P E
PE
Fishelson
Z
Z
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003184:Complement C7 / Q000172:deficiency* / Q000235:genetics; D003185:Complement C8 / Q000172:deficiency* / Q000235:genetics; D003170:Complement Pathway, Alternative; D005260:Female; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007585:Jews; D008297:Male; D008589:Meningococcal Infections / Q000453:epidemiology / Q000235:genetics / Q000276:immunology*; D015995:Prevalence; D011414:Properdin / Q000172:deficiency* / Q000235:genetics
D003184:Complement C7; D003185:Complement C8; D011414:Properdin