C7 complement deficiency in an Israeli Arab village

被引:11
作者
Behar, D
Schlesinger, M
Halle, D
Ben-Ami, H
Edoute, Y
Shahar, E
Kasis, I
Shihab, S
Elstein, D
Zimran, A
Mandel, H
机构
[1] Shaare Zedek Med Ctr, Gaucher Clin, IL-91031 Jerusalem, Israel
[2] Rambam Med Ctr, Dept Internal Med C, Haifa, Israel
[3] Barzilai Govt Hosp, Dept Pediat & Immunol, Ashqelon, Israel
[4] Techn Fac Med, Rambam Med Ctr, Metab Unit, Haifa, Israel
[5] Techn Fac Med, Rambam Med Ctr, Inst Allergy Immunol & AIDS, Haifa, Israel
[6] Minist Hlth, Dept Prevent Hlth Serv, Akko, Israel
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 110卷 / 01期
关键词
C7 complement deficiency; Neisserial infection; Arab;
D O I
10.1002/ajmg.10393
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Deficiencies of terminal complement components, particularly the latter ones, are often detected because of increased susceptibility to Neisserial infections. Herein we document the first report of C7 deficiency among a highly inbred Arab population living in the lower Galilee region of Israel. Both biochemical and molecular analysis were performed on samples from infected survivors and parents of children who succumbed to Neisserial infections in a 4-year period. Only the index case who suffered recurrent infections and a sibling who had not suffered an infection during the outbreak were found to be C7-deficient. The mutation was found to be the one previously described to be prevalent among Israeli Jews of Moroccan ancestry (mutation G1135C). The implications of this finding are discussed in the context of family pedigree, the protective effect of complement deficiency, and the clinical outcome. (C) 2002 Wiley-Liss, Inc.
引用
收藏
页码:25 / 29
页数:5
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