Literature DB >> 12116267

C7 complement deficiency in an Israeli Arab village.

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.

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Year:  2002        PMID: 12116267     DOI: 10.1002/ajmg.10393

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign.

Authors:  Liran I Shlush; Doron M Behar; Adrian Zelazny; Nathy Keller; James R Lupski; Arthur L Beaudet; Dani Bercovich
Journal:  J Clin Microbiol       Date:  2002-10       Impact factor: 5.948

2.  Complement component C7 deficiency in two Spanish families.

Authors:  Sonia Barroso; Berta Sánchez; Antonia José Alvarez; Margarita López-Trascasa; Amparo Lanuza; Rafael Luque; Ingeborg Wichmann; Antonio Núñez-Roldán
Journal:  Immunology       Date:  2004-12       Impact factor: 7.397

3.  Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency.

Authors:  Chang-Seok Ki; Jong-Won Kim; Hee-Jin Kim; Sung-Min Choi; Gyoung-Yim Ha; Hee Jung Kang; Won-Duck Kim
Journal:  J Korean Med Sci       Date:  2005-04       Impact factor: 2.153

4.  Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families.

Authors:  Hee Jung Kang; Chang-Seok Ki; Yeon-Sook Kim; Mina Hur; So Ick Jang; Ki Sik Min
Journal:  J Clin Immunol       Date:  2006-03-22       Impact factor: 8.317

  4 in total

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