| Literature DB >> 12116267 |
Doron Behar1, Menachem Schlesinger, David Halle, Haim Ben-Ami, Yehouda Edoute, Eduardo Shahar, Imad Kasis, Shihab Shihab, Deborah Elstein, Ari Zimran, Hanna Mandel.
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. Copyright 2002 Wiley-Liss, Inc.Entities:
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Year: 2002 PMID: 12116267 DOI: 10.1002/ajmg.10393
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299