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Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency

Background: Hereditary angioedema (HAE) is a potentially life-threatening disorder characterized by recurrent episodes of subcutaneous or submucosal swelling. HAE with normal C1 inhibitor (HAE-nC1-INH) is an underdiagnosed condition. Although the association with genetic variants has been identified...

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Principais autores: Denis Vincent, MD, PhD, Faidra Parsopoulou, PharmD, PhD, Ludovic Martin, MD, PhD, Christine Gaboriaud, PhD, Jacques Demongeot, MD, PhD, Gedeon Loules, MSc, Sascha Fischer, MSc, Sven Cichon, PhD, Anastasios E. Germenis, MD, PhD, Arije Ghannam, MD, PhD, Christian Drouet, PharmD, PhD
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2024-05-01
Serier:Journal of Allergy and Clinical Immunology: Global
Fag:
Urticaria
angioedema
hereditary carboxypeptidase N deficiency
CPN1 gene
Online adgang:http://www.sciencedirect.com/science/article/pii/S2772829324000195
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