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CRM+ severe Fletcher factor deficiency associated with Graves' disease



CRM+ severe Fletcher factor deficiency associated with Graves' disease



Haemostasis 14(4): 302-306



A 59-year-old male patient with Graves' disease and severe hereditary Fletcher factor deficiency is described. PKK clotting activity as well as the activity by a chromogenic substrate method (Chromozym PK) was less then 0.01 U/ml. In contrast to functional tests, the immunological assay (Laurell method) showed a PKK antigen concentration of 0.25 U/ml, indicating the presence of an abnormal nonfunctional PKK molecule (CRM+ variant). An inhibitor was excluded since the patient plasma did not inactivate partially purified PKK. Investigation of 11 family members revealed a reduction of the PKK clotting activity in 9 relatives of the patient. Since Graves' disease is considered an autoimmune disease, our case represents an example of an association of a severe hereditary deficiency of a contact factor and an autoimmune disease.

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Accession: 042429177

Download citation: RISBibTeXText

PMID: 6568197

DOI: 10.1159/000215079


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