Hereditary angio-oedema and C3 nephritic factor--HL-A study.
In one family of twenty-four members hereditary angio-oedema was present in the family for six generations. The protein C1 esterase inactivator found in nine patients proved to be non-active in a functional test. Another anomaly found in the complementary system was labelled C3 nephritic factor without any renal, or other clinical symptoms. Study of HL-A haplotypes did not show any linkage with the loci A, B and C. Hereditary angio-oedema is a disease arising from a specific defect in the inactivator of the C1 esterase (C1 INA) which is a regulating component of the complement system (Donaldson & Evans, 1963). This system is of current interest because of its interaction with other mechanisms of inflammation. Moreover, some links have been discovered recently between HL-A and hereditary defects of complement. This paper reports new findings in a family with hereditary angio-oedema.
D000799:Angioedema / Q000235:genetics* / Q000276:immunology; D003174:Complement C1 Inactivator Proteins / Q000276:immunology; D003178:Complement C3 Nephritic Factor / Q000276:immunology*; D003169:Complement Inactivator Proteins / Q000276:immunology*; D006680:HLA Antigens / Q000235:genetics / Q000276:immunology*; D006238:Haploidy; D006650:Histocompatibility Testing; D006801:Humans; D008875:Middle Aged; D010375:Pedigree
D003174:Complement C1 Inactivator Proteins; D003178:Complement C3 Nephritic Factor; D003169:Complement Inactivator Proteins; D006680:HLA Antigens