Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Common variable immunodeficiency (CVID) has been associated recently with a dramatic increase in total copy number variation burden, the cause of which is unclear. In order to explore further the origin and clinical relevance of this finding, we quantified the total genomic copy number variation (CNV) burden in affected patients and evaluated clinical details in relationship to total CNV burden. No correlation was found between total CNV burden and either patient age or time elapsed since symptom onset, and higher total burden did not correlate with incidence of malignancy or other subphenotypes. These findings suggest that the increased CNV burden is static and intrinsic to CVID as a disease.

Original publication




Journal article


Clin Exp Immunol

Publication Date





269 - 271


CVID, copy number variation, immunodeficiency, immunoglobulin, Adolescent, Adult, Age of Onset, Aged, Child, Child, Preschool, Common Variable Immunodeficiency, DNA Copy Number Variations, Female, Genome, Human, Humans, Incidence, Lymphoma, Male, Middle Aged, United States, Young Adult