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C7 complement deficiency in an Israeli Arab village.

作者信息

Behar Doron, Schlesinger Menachem, Halle David, Ben-Ami Haim, Edoute Yehouda, Shahar Eduardo, Kasis Imad, Shihab Shihab, Elstein Deborah, Zimran Ari, Mandel Hanna

机构信息

Department of Internal Medicine C, Rambam Medical Center, Haifa, Israel.

出版信息

Am J Med Genet. 2002 Jun 1;110(1):25-9. doi: 10.1002/ajmg.10393.

Abstract

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.

摘要

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