Association of Graves' disease and prekallikrein congenital deficiency in a patient belonging to the first CRM+ prekallikrein-deficient Italian family.
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.
De Stefano
V
V
Istituto di Semeiotica Medica, Università Cattolica del S. Cuore, Roma, Italy.
Leone
G
G
Teofili
L
L
De Marinis
L
L
Micalizzi
P
P
Fiumara
C
C
Bizzi
B
B
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
D011288:Prekallikrein