CRM+ severe Fletcher factor deficiency associated with Graves' disease.
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.
D003429:Cross Reactions; D006111:Graves Disease / Q000097:blood* / Q000235:genetics; D006801:Humans; D007610:Kallikreins / Q000172:deficiency*; D008297:Male; D010375:Pedigree; D011288:Prekallikrein / Q000172:deficiency* / Q000276:immunology
D011288:Prekallikrein; D007610:Kallikreins