A case of Bernard-Soulier syndrome: study of platelet glycoprotein Ib in a kindred.
The Bernard-Soulier syndrome is characterized by low platelet counts, abnormally large (giant) platelets, and impaired or absent platelet aggregation by the inducer antibiotic ristocetin. The recent discovery of the inherited biochemical defect and the deficient synthesis of platelet glycoprotein Ib (GP-Ib), has contributed greatly to the understanding of the disease. We report a case of the Bernard-Soulier syndrome presenting with bleeding from the pharynx after adenotomy. The patient and nearest family members were studied by a novel immunoperoxidase method for quantification of platelet glycoprotein Ib using a specific monoclonal antibody (AN51).
Ingerslev
J
J
Department of Clinical Immunology, University Hospital Aarhus, Denmark.
Stenbjerg
S
S
Taaning
E
E
D000911:Antibodies, Monoclonal; D001791:Blood Platelet Disorders / Q000097:blood* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D006801:Humans; D008297:Male; D010375:Pedigree; D010980:Platelet Membrane Glycoproteins / Q000378:metabolism*
D000911:Antibodies, Monoclonal; D010980:Platelet Membrane Glycoproteins