A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain)

A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain)

Hereditary angioedema (HAE) is a rare disease where known causes involve C1 inhibitor dysfunction or dysregulation of the kinin cascade. The updated HAE management guidelines recommend performing genetic tests to reach a precise diagnosis. Unfortunately, genetic tests are still uncommon in the diagn...

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Main Authors: Alejandro Mendoza-Alvarez, Eva Tosco-Herrera, Adrian Muñoz-Barrera, Luis A. Rubio-Rodríguez, Aitana Alonso-Gonzalez, Almudena Corrales, Antonio Iñigo-Campos, Lourdes Almeida-Quintana, Elena Martin-Fernandez, Dara Martinez-Beltran, Eva Perez-Rodriguez, Ariel Callero, Jose C. Garcia-Robaina, Rafaela González-Montelongo, Itahisa Marcelino-Rodriguez, Jose M. Lorenzo-Salazar, Carlos Flores
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Immunology
Subjects:
hereditary angioedema
genetic cause
rare disease
variant interpretation
precision medicine
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.997148/full

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