A CRM-Positive variant of factor-VII deficiency and the detection of heterozygotes with the assay of factor-like antigen.
Nine patients with severe factor-VII deficiency, belonging to seven pedigrees were studied for the presence of factor-VII-CRM with an inhibitor neutralization assay. The antibody, raised in rabbits, did not precipitate the antigen and could only be used in a fluid phase assay to measure the capacity of plasma to neutralize inhibitory activity directed against factor-VII activity. In one of these nine patients normal amounts of factor-VII-CRM could be demonstrated. The CRM + patient did not show a clinical picture at variance with that of the CRM-patients. The investigation into this CRM+ pedigree revealed heterozygosity in nine out of 12 persons when using the ratio between biological factor-VII activity and factor-VII-CRM as the criterion.
D000293:Adolescent; D000328:Adult; D000818:Animals; D000941:Antigens / Q000032:analysis; D002648:Child; D003429:Cross Reactions; D005167:Factor VII / Q000032:analysis / Q000276:immunology; D005168:Factor VII Deficiency / Q000235:genetics / Q000276:immunology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009500:Neutralization Tests; D010375:Pedigree; D011817:Rabbits
D000941:Antigens; D005167:Factor VII