[Congenital C1-esterase inhibitor deficiency. A study of 4 Algerian families].
We present the results of a preliminary study (the first of this kind in Algeria) in which 4 families presenting with congenital deficiency of the C1-esterase inhibitor (C1-INH) responsible for hereditary angioneurotic oedema were biologically explored. The complement fractions C1-INH, C4 and C3d were assayed in 38 subjects of the 4 families. Extending this biological evaluation to all members of theses families enabled us to identify all asymptomatic subjects (46 percent in our series). In 2 patients the congenital disease was associated with systemic lupus erythematosus. Some clinico-biological discordances are reported and discussed in the light of data from the literature.
Chelah
A
A
Laboratoire d'Immunologie, Institut Pasteur d'Algérie, Laveran.
Bekkhoucha
F
F
Hebache
A
A
Benharat
I
I
Belkhir
R
R
Abbadi
M
M
D000293:Adolescent; D000328:Adult; D000462:Algeria; D000799:Angioedema / Q000151:congenital* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency* / Q000235:genetics; D015933:Complement C3d / Q000032:analysis; D003181:Complement C4 / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D003174:Complement C1 Inactivator Proteins; D003181:Complement C4; D015933:Complement C3d
Déficits congénitaux en inhibiteur de la C1-estérase. Etude de 4 familles algériennes.