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Burden of copy number variation in common variable immunodeficiency
M Keller1, J Glessner, E Resnick
1The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Clinical and Experimental Immunology
|December 17, 2013
Summary
Common variable immunodeficiency (CVID) shows increased copy number variation. This genomic change appears static and intrinsic to CVID, not correlating with clinical factors like age or malignancy risk.
Area of Science:
- Genetics
- Immunology
- Genomic Instability
Background:
- Common variable immunodeficiency (CVID) is increasingly linked to a significant rise in total copy number variation (CNV) burden.
- The underlying cause and clinical significance of this elevated CNV burden in CVID remain largely unknown.
Purpose of the Study:
- To investigate the origin and clinical relevance of increased genomic copy number variation (CNV) in patients with CVID.
- To evaluate the relationship between total CNV burden and clinical details in CVID patients.
Main Methods:
- Quantification of total genomic copy number variation (CNV) burden in CVID patients.
- Evaluation of clinical data, including patient age, symptom onset duration, malignancy incidence, and other subphenotypes, in relation to CNV burden.
Main Results:
- No significant correlation was observed between the total CNV burden and patient age.
- The time elapsed since symptom onset did not correlate with the total CNV burden.
- Higher total CNV burden did not show a correlation with the incidence of malignancy or other CVID subphenotypes.
Conclusions:
- The increased copy number variation burden in CVID appears to be a static characteristic of the disease.
- These findings suggest that the elevated CNV burden is intrinsic to CVID, rather than being influenced by disease progression or clinical manifestations.
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