title: Association of Graves' disease and prekallikrein congenital deficiency in a patient belonging to the first CRM+ prekallikrein-deficient Italian family.
abstract: Severe prekallikrein (Fletcher factor) deficiency was diagnosed in a 49-year-old woman and in 3 of her siblings. Functional prekallikrein (PKK) activity was found below 1% by clotting assay and 20% by amidolytic assay in all the affected subjects; PKK cross-reacting material (CRM) was present in all the patients (antigen levels from 34% to 54%). This is the first CRM+ PKK-deficient family identified in Italy. The index patient was affected from Graves' disease: such association was previously reported in another patient with PKK congenital defect.
authors.affiliation: Istituto di Semeiotica Medica, Università Cattolica del S. Cuore, Roma, Italy.
authors.forename: V
authors.initials: V
authors.lastname: De Stefano
authors.forename: G
authors.initials: G
authors.lastname: Leone
authors.forename: L
authors.initials: L
authors.lastname: Teofili
authors.forename: L
authors.initials: L
authors.lastname: De Marinis
authors.forename: P
authors.initials: P
authors.lastname: Micalizzi
authors.forename: C
authors.initials: C
authors.lastname: Fiumara
authors.forename: B
authors.initials: B
authors.lastname: Bizzi
mesh_terms: D003429:Cross Reactions; D005260:Female; D006111:Graves Disease / Q000097:blood / Q000235:genetics*; D006801:Humans; D007558:Italy; D008875:Middle Aged; D011288:Prekallikrein / Q000172:deficiency* / Q000276:immunology
chemical_list: D011288:Prekallikrein