C7 complement deficiency in an Israeli Arab village.
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.
Department of Internal Medicine C, Rambam Medical Center, Haifa, Israel.
Doron
D
Behar
Menachem
M
Schlesinger
David
D
Halle
Haim
H
Ben-Ami
Yehouda
Y
Edoute
Eduardo
E
Shahar
Imad
I
Kasis
Shihab
S
Shihab
Deborah
D
Elstein
Ari
A
Zimran
Hanna
H
Mandel
D000293:Adolescent; D018912:Arabs / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003184:Complement C7 / Q000172:deficiency* / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D007557:Israel; D008297:Male; D009154:Mutation; D010375:Pedigree
D003184:Complement C7; D004247:DNA