J Mol Diagn 2022 06 12;24(6):586-599. Epub 2022 May 12.
School of Medicine, University of Western Australia, Perth, Western Australia, Australia; Department of Clinical Immunology and PathWest, Fiona Stanley Hospital, Perth, Western Australia, Australia. Electronic address:
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 <18 years, autoimmunity, low memory B lymphocytes, family history, and/or history of lymphoproliferation. Read More