HEREDITARY-DEFICIENCY OF THE 7TH COMPONENT OF COMPLEMENT AND RECURRENT MENINGOCOCCAL INFECTION - INVESTIGATIONS OF AN IRISH FAMILY USING A NOVEL HEMOLYTIC SCREENING ASSAY FOR COMPLEMENT ACTIVITY AND C7 M/N ALLOTYPING

被引:11
作者
EGAN, LJ
ORREN, A
DOHERTY, J
WURZNER, R
MCCARTHY, CF
机构
[1] UNIV COLL HOSP GALWAY,DEPT MED,INST CLIN SCI,GALWAY,IRELAND
[2] MRC CTR,MOLEC IMMUNOPATHOL UNIT,CAMBRIDGE CB2 2QH,ENGLAND
关键词
D O I
10.1017/S0950268800051700
中图分类号
R1 [预防医学、卫生学];
学科分类号
1004 ; 120402 ;
摘要
Terminal complement component deficiency predisposes to meningococcal infection and is inherited in an autosomal co-dominant manner. An Irish family is described, in which 2 of 3 brothers had recurrent meningococcal infection. A novel screening assay was used to investigate for terminal complement deficiency and the 2 affected brothers were found to be completely deficient in the seventh component of complement (C7). Enzyme-linked immunosorbent assay for C7 revealed lower than normal levels in the remaining brother and parents. C7 M/N protein polymorphism allotyping, used to investigate the segregation of the C7 deficiency genes, showed that the apparently complement sufficient brother was heterozygous C7 deficient and a carrier of one of the deficiency genes. Complement screening should be carried out in any individual suffering recurrent meningococcal infection or infection with an uncommon meningococcal serogroup. Identification of complement deficient patients allows the implementation of strategies to prevent recurrent infection.
引用
收藏
页码:275 / 281
页数:7
相关论文
共 22 条
[1]   VACCINATION AND THE ROLE OF CAPSULAR POLYSACCHARIDE ANTIBODY IN PREVENTION OF RECURRENT MENINGOCOCCAL DISEASE IN LATE COMPLEMENT COMPONENT DEFICIENT INDIVIDUALS [J].
ANDREONI, J ;
KAYHTY, H ;
DENSEN, P .
JOURNAL OF INFECTIOUS DISEASES, 1993, 168 (01) :227-231
[2]  
BRAI M, 1989, Complement and Inflammation, V6, P316
[3]   A CHANGE IN MENINGOCOCCAL SEROGROUPS IN THE WEST OF IRELAND [J].
CORBETTFEENEY, G .
IRISH JOURNAL OF MEDICAL SCIENCE, 1991, 160 (05) :134-138
[4]  
FIJEN CAP, 1989, LANCET, V2, P585
[5]  
GRIFFISS JM, 1975, J IMMUNOL, V114, P1779
[6]  
HARRISON RA, 1986, HDB EXPT IMMUNOLOGY, V1
[7]  
HOBART MJ, 1976, TRANSPLANT REV, V32, P26
[8]  
HOBART MJ, 1978, J IMMUNOGENET, V5, P157
[9]   A PHYSICAL MAP OF THE C6 AND C7 COMPLEMENT COMPONENT GENE REGION ON CHROMOSOME-5P13 [J].
HOBART, MJ ;
FERNIE, BA ;
DISCIPIO, RG ;
LACHMANN, PJ .
HUMAN MOLECULAR GENETICS, 1993, 2 (07) :1035-1036
[10]   MENINGOCOCCAL SEPTICEMIA IN A C6-DEFICIENT PATIENT AND EFFECTS OF PLASMA TRANSFUSION ON LIPOPOLYSACCHARIDE RELEASE [J].
LEHNER, PJ ;
DAVIES, KA ;
WALPORT, MJ ;
COPE, AP ;
WURZNER, R ;
ORREN, A ;
MORGAN, BP ;
COHEN, J .
LANCET, 1992, 340 (8832) :1379-1381