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A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency

A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency

by admin | Nov 8, 2020

Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INHHAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of SERPING1 after conventional genotyping were...
The icatibant outcome survey: treatment of laryngeal angioedema attacks

The icatibant outcome survey: treatment of laryngeal angioedema attacks

by mm-red | Jul 30, 2020

Objective: To characterize the management and outcomes of life-threatening laryngeal attacks of hereditary angioedema (HAE) treated with icatibant in the observational Icatibant Outcome Survey (NCT01034969) registry. Methods: This retrospective analysis was based on...
The icatibant outcome survey: treatment of laryngeal angioedema attacks

F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema

by mm-red | Jul 30, 2020

The factors influencing the heterogeneous clinical manifestation of hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) represent one of the oldest unsolved problems of the disease. Considering that factor XII (FXII) levels may affect bradykinin production, we...
The icatibant outcome survey: treatment of laryngeal angioedema attacks

Treatment of HAE Attacks in the Icatibant Outcome Survey: An Analysis of Icatibant Self-Administration versus Administration by Health Care Professionals

by mm-red | Jul 29, 2020

Background: Icatibant, a selective bradykinin B2 receptor antagonist for the treatment of acute hereditary angio-oedema (HAE) attacks in adults, can be administered by health care professionals (HCPs) or self-administered. This analysis compared characteristics and...
The icatibant outcome survey: treatment of laryngeal angioedema attacks

Genetic determinants of C1 inhibitor deficiency angioedema age of onset

by mm-red | Jul 29, 2020

Background: In view of the large heterogeneity in the clini- cal presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made to- wards detecting measurable biological determinants of disease severity that can help to...
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