Article
Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype.
Allergy - 1 Dec 2014
Charignon D, Ghannam A, Defendi F, Ponard D, Monnier N, López Trascasa M, Launay D, Caballero T, Djenouhat K, Fain O, Cichon S, Martin L, Drouet C
Abstract excerpt
BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1Inh) associated with the c.983C>A and c.983C>G mutations of the F12 gene (FXII-HAE) is a rare condition, and presents with highly variable clinical expression. On the basis of data gathered from a large carrier cohort, we assessed the modifiers affecting the clinical phenotype. METHODS: We analyzed clinical and biological data recorded from 118...
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