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Article

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

PloS one - 1 Jan 2024

Arias-Flórez Juan Sebastian, Ramirez Sandra Ximena, Bayona-Gomez Bibiana, Castro-Castillo Lina, Correa-Martinez Valeria, Sanchez-Gomez Yasmín, Usaquén-Martínez William, Casas-Vargas Lilian Andrea, Olmos Olmos Carlos Eduardo, Contreras Bravo Nora, Velandia-Piedrahita Camilo Andres, Morel Adrien, Cabrera-Perez Rodrigo, Santiago-Tovar Natalia, Gaviria-Sabogal Cristian Camilo, Bernal Ingrid Tatyana, Fonseca-Mendoza Dora Janeth, Restrepo Carlos M

Abstract excerpt

Hereditary angioedema type 1 (HAE1) is a rare, genetically heterogeneous, and autosomal dominant disease. It is a highly variable, insidious, and potentially life-threatening condition, characterized by sudden local, often asymmetric, and episodic subcutaneous and submucosal swelling, caused by pathogenic molecular variants in the SERPING1 gene, which codes for C1-Inhibitor protein. This study performed the...

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Adolescent
Child
Colombia
Complement C1 Inhibitor Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

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Identifiers

PMID: 39724085
DOI: 10.1371/journal.pone.0311316
PMCID: PMC11671010

Genes

SERPING1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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