Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.
C1-INH-HAE
C1-inhibitor
MLPA
SERPING1
hereditary angioedema
long-range PCR
mutation
sequencing
Journal
Frontiers in allergy
ISSN: 2673-6101
Titre abrégé: Front Allergy
Pays: Switzerland
ID NLM: 9918227355906676
Informations de publication
Date de publication:
2022
2022
Historique:
received:
15
12
2021
accepted:
07
02
2022
entrez:
7
4
2022
pubmed:
8
4
2022
medline:
8
4
2022
Statut:
epublish
Résumé
Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare autosomal dominant disorder, characterized by recurrent, unpredictable edematous symptoms involving subcutaneous, and/or submucosal tissue. C1-INH-HAE may be caused by more than 700 different mutations in the gene encoding C1-INH ( Concentrations of C1-INH, C4, C1q, and anti-C1-INH antibodies, as well as functional C1-INH activity were determined in subjects suffering from edematous symptoms and admitted to the Hungarian Angioedema Center of Reference and Excellence. In those patients, who were diagnosed with C1-INH-HAE based on the complement measurements, Altogether 197 individuals with C1-INH deficiency belonging to 68 families were identified. By applying Sanger sequencing or copy number determination of Sequencing and copy number determination of
Sections du résumé
Background
UNASSIGNED
Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare autosomal dominant disorder, characterized by recurrent, unpredictable edematous symptoms involving subcutaneous, and/or submucosal tissue. C1-INH-HAE may be caused by more than 700 different mutations in the gene encoding C1-INH (
Methods
UNASSIGNED
Concentrations of C1-INH, C4, C1q, and anti-C1-INH antibodies, as well as functional C1-INH activity were determined in subjects suffering from edematous symptoms and admitted to the Hungarian Angioedema Center of Reference and Excellence. In those patients, who were diagnosed with C1-INH-HAE based on the complement measurements,
Results
UNASSIGNED
Altogether 197 individuals with C1-INH deficiency belonging to 68 families were identified. By applying Sanger sequencing or copy number determination of
Conclusions
UNASSIGNED
Sequencing and copy number determination of
Identifiants
pubmed: 35386643
doi: 10.3389/falgy.2022.836465
pmc: PMC8974857
doi:
Types de publication
Journal Article
Langues
eng
Pagination
836465Informations de copyright
Copyright © 2022 Szabó, Csuka, Andrási, Varga, Farkas and Szilágyi.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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