Article
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.
Journal of clinical immunology - 1 Feb 2023
Sheikh Farrukh, Alajlan Huda, Albanyan Maram, Alruwaili Hibah, Alawami Fatimah, Sumayli Safia, Al Gazlan Sulaiman, Abu Awwad Sawsan, Al-Dhekri Hasan, Al-Saud Bandar, Arnaout Rand, Alrayes Hassan, Sayes Najla, Al-Hamed Mohamed H, Al-Mousa Hamoud, AlShareef Saad, Alazami Anas M
Abstract excerpt
Hereditary angioedema (HAE) is a potentially life-threatening autosomal dominant disorder affecting roughly 1:50,000 individuals. It is commonly characterized by swelling of the larynx, gastrointestinal tract, extremities, and skin. There is growing genetic heterogeneity associated with this disease but more than 95% of mutations are found in SERPING1, the gene which encodes complement 1 inhibitor (C1-INH). HAE...
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