A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study

A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study

With the advent of next-generation sequencing (NGS), monogenic forms of common variable immunodeficiency (CVID) have been increasingly described. Our study aimed to identify disease-causing variants in a Western Australian CVID cohort using a novel targeted NGS panel. Targeted amplicon NGS was perfo...

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Veröffentlicht in:The Journal of molecular diagnostics : JMD 2022-06, Vol.24 (6), p.586-599
Hauptverfasser: Kermode, William, De Santis, Dianne, Truong, Linh, Della Mina, Erika, Salman, Sam, Thompson, Grace, Nolan, David, Loh, Richard, Mallon, Dominic, Mclean-Tooke, Andrew, John, Mina, Tangye, Stuart G, O'Sullivan, Michael, D'Orsogna, Lloyd J
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Australia
Cohort Studies
Common Variable Immunodeficiency - diagnosis
Common Variable Immunodeficiency - genetics
High-Throughput Nucleotide Sequencing
Humans
Mutation
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Zusammenfassung:With the advent of next-generation sequencing (NGS), monogenic forms of common variable immunodeficiency (CVID) have been increasingly described. Our study aimed to identify disease-causing variants in a Western Australian CVID cohort using a novel targeted NGS panel. Targeted amplicon NGS was performed on 22 unrelated subjects who met the formal European Society for Immunodeficiencies-Pan-American Group for Immunodeficiency diagnostic criteria for CVID and had at least one of the following additional criteria: disease onset at age
ISSN:1943-7811
DOI:10.1016/j.jmoldx.2022.02.007