Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.

Abstract excerpt

Hereditary Angioedema (HAE) is an autosomal dominant disorder characterized clinically by recurrent episodes of swelling involving subcutaneous tissues, gastrointestinal tract, and oro-pharyngeal area. Gene mutations are the most common genetic cause of HAE and observed in more than 90% of patients. More than 700 mutation variants have been described so far. Patients with angioedema who have no mutations in the...

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