Normal complement C4 values do not exclude hereditary angioedema
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چکیده
منابع مشابه
Normal complement C4 values do not exclude hereditary angioedema.
This report describes a patient with hereditary angioedema (HAE) in whom complement C4 values were consistently normal. There was a family history of HAE, for which the patient had previously been screened, but in view of her normal C4 values she was deemed unaffected. However, at 10 years of age she presented with an eight month history of episodes of swelling affecting her hands and recurrent...
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The genetic deficiency of the C1 inhibitor is responsible for hereditary angioedema (HAE), which is a disease transmitted as an autosomal dominant trait. More than 200 point mutations in the C1 inhibitor gene have been found to be associated with HAE. Patients with this disease suffer from recurrent angioedema, which is mediated by bradykinin derived from activation of the contact system. This ...
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ژورنال
عنوان ژورنال: Journal of Clinical Pathology
سال: 2004
ISSN: 0021-9746
DOI: 10.1136/jcp.2003.12021