Hageman factor deficiency in ataxia telangiectasia.
Ataxia-telangiectasia is clinically characterized by the presence of cerebellar ataxia, choreoathetosis, and oculocutaneous telangiectasia. Humorocellular immune deficiency may be associated with the disease. So far, no coagulation abnormalities have been reported in patients with ataxia-telangiectasia. Presence of Hageman factor deficiency in our patient could merely be a coincidental occurrence of two rare independent disease states. Since this coagulation abnormality in Hageman factor deficiency is rather subtle and not usually associated with clinically significant bleeding, this defect can be easily overlooked.
D000328:Adult; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000235:genetics; D001778:Blood Coagulation Disorders / Q000150:complications*; D005174:Factor XII; D005260:Female; D006801:Humans
D005174:Factor XII