Clinical Features of Patients with Hereditary Angioedema with Normal C1 Inhibitor: A Study of Seventy-Four Brazilian Individuals Belonging to Nine Unrelated Families

The majority of patients with HAE present mutations in the gene coding for C1 inhibitor (C1-INH); in addition, mutations in the gene coding for coagulation factor XII (FXII) have been described in patients with normal C1-INH (HAE-FXII).

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Bibliographic Details
Published in:Journal of allergy and clinical immunology 2016-02, Vol.137 (2), p.AB250-AB250
Main Authors: Sella, Juliana A., MD, Delcaro, Luana, BSc, Melo, Janaina M.L., MD, Nociti, Thais M., MD, Dias, Marina M., Chem, Valle, Solange R., MD, PhD, França, Alfeu T., MD, Levy, Soloni, MD, Serpa, Faradiba Sarquis, MD, Ferriani, Mariana P.L., MD, Moreno, Adriana S., PhD, Arruda, Luisa Karla P., MD PhD FAAAAI
Format: Article
Language:English
Subjects:
Abdomen
Allergy and Immunology
Genes
Mutation
Online Access:Get full text
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Description
Summary:The majority of patients with HAE present mutations in the gene coding for C1 inhibitor (C1-INH); in addition, mutations in the gene coding for coagulation factor XII (FXII) have been described in patients with normal C1-INH (HAE-FXII).
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2015.12.902