Familial acquired thrombotic thrombocytopenic purpura: ADAMTS13 inhibitory autoantibodies in identical twins
| Autor: | Urs Wirthmueller, Dragutin Ivanović, Jan-Dirk Studt, Vladimir Gašparović, Johanna A. Kremer Hovinga, Miha Furlan, Clemens A. Dahinden, Bernhard Lämmle, Radovan Radonić, Marijan Merkler |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Hemolytic anemia Immunology Thrombotic thrombocytopenic purpura ADAMTS13 Protein medicine.disease_cause Biochemistry Immunoglobulin G Autoimmunity hemic and lymphatic diseases Coagulopathy medicine Humans heterocyclic compounds Autoantibodies Acquired Thrombotic Thrombocytopenic Purpura Purpura Thrombotic Thrombocytopenic biology business.industry Histocompatibility Testing Autoantibody Metalloendopeptidases Twins Monozygotic Cell Biology Hematology respiratory system medicine.disease ADAMTS13 ADAM Proteins biology.protein Female business therapeutics |
| Zdroj: | Blood. 103:4195-4197 |
| ISSN: | 1528-0020 0006-4971 |
| Popis: | Thrombotic thrombocytopenic purpura (TTP) either occurs in a congenital form caused by ADAMTS13 gene mutations or it is acquired and most often due to ADAMTS13 inhibitory autoantibodies. In congenital TTP siblings are often affected, while acquired TTP occurs sporadically and familial clustering has not been described so far. We report identical twin sisters suffering from acquired TTP due to immunoglobulin G (IgG) autoantibodies inactivating ADAMTS13, suggesting an important role of hitherto unidentified genetic determinants of ADAMTS13 inhibitor formation. These cases also demonstrate that familial clustering is not sufficient for unambiguously diagnosing hereditary ADAMTS13 deficiency and congenital TTP. (Blood. 2004;103:4195-4197) |
| Databáze: | OpenAIRE |
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