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Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency

Cilt: 36 Sayı: 2026 10 Mart 2026
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Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency

Öz

Aims: Common Variable Immunodeficiency (CVID) is a heterogeneous primary immunodeficiency characterized by impaired antibody production and diverse clinical manifestations. Although some monogenic causes are known, the genetic basis remains unclear for many patients. This retrospective study aimed to investigate the presence of pathogenic or potentially pathogenic genetic variants in CVID patients and compare their clinical, demographic, and laboratory features with those without such variants. 

Methods: A total of 68 CVID patients were divided into two groups based on their genetic analysis results: the mutation present group, including patients with pathogenic, likely pathogenic, or variants of uncertain significance (VUS) with potential pathogenicity; and the mutation absent group, including those with benign/likely benign variants or no mutations. Clinical and laboratory data were collected from patient records and compared statistically. 

Results: Twenty-five patients (36.7%) were in the mutation present group, and 43 (63.3%) were in the mutation absent group. Serum IgG levels were significantly higher in the mutation present group (p = 0.013). Splenomegaly (52% vs. 20.9%, p = 0.008) and cytopenia (64% vs. 23.3%, p = 0.001) were more frequent in the mutation present group. Multivariate analysis showed that absence of bronchiectasis (OR = 4.208, p = 0.036), presence of splenomegaly (OR = 3.699, p = 0.047), cytopenia (OR = 6.632, p = 0.004), and rheumatologic disease (OR = 6.811, p = 0.028) independently predicted mutation presence. 

Conclusion: Splenomegaly, cytopenia, and rheumatologic disease independently predicted mutation presence in CVID patients, suggesting a link between genetic variants and immune dysregulation. Despite CVID’s heterogeneity, some patients have identifiable genetic backgrounds tied to distinct clinical features. Larger prospective studies are needed to clarify genotype–phenotype correlations. Detecting genetic defects is also crucial for patient care and family risk assessment.

Anahtar Kelimeler

Bronchiectasis, Common Variable Immunodeficiency, Cytopenia, Genetic Variants, Pathogenic Variants, Rheumatologic Disease, Splenomegaly

Destekleyen Kurum

This study received no external funding.

Proje Numarası

Not Applicable

Etik Beyan

This study was conducted in accordance with the ethical standards of the institutional research committee and with the Helsinki Declaration

Teşekkür

No acknowledgments

Kaynakça

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Kaynak Göster

APA
Akkuş, F. A., Çölkesen, F., Önalan, T., Gerek, M. E., Sadi Aykan, F., Göktaş, E., & Arslan, Ş. (2026). Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency. Genel Tıp Dergisi, 36(2026), 1-6. https://doi.org/10.54005/geneltip.1808445
AMA
1.Akkuş FA, Çölkesen F, Önalan T, vd. Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency. Genel Tıp Derg. 2026;36(2026):1-6. doi:10.54005/geneltip.1808445
Chicago
Akkuş, Fatma Arzu, Fatih Çölkesen, Tuğba Önalan, vd. 2026. “Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency”. Genel Tıp Dergisi 36 (2026): 1-6. https://doi.org/10.54005/geneltip.1808445.
EndNote
Akkuş FA, Çölkesen F, Önalan T, Gerek ME, Sadi Aykan F, Göktaş E, Arslan Ş (01 Mart 2026) Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency. Genel Tıp Dergisi 36 2026 1–6.
IEEE
[1]F. A. Akkuş vd., “Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency”, Genel Tıp Derg, c. 36, sy 2026, ss. 1–6, Mar. 2026, doi: 10.54005/geneltip.1808445.
ISNAD
Akkuş, Fatma Arzu - Çölkesen, Fatih - Önalan, Tuğba - Gerek, Mehmet Emin - Sadi Aykan, Filiz - Göktaş, Emine - Arslan, Şevket. “Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency”. Genel Tıp Dergisi 36/2026 (01 Mart 2026): 1-6. https://doi.org/10.54005/geneltip.1808445.
JAMA
1.Akkuş FA, Çölkesen F, Önalan T, Gerek ME, Sadi Aykan F, Göktaş E, Arslan Ş. Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency. Genel Tıp Derg. 2026;36:1–6.
MLA
Akkuş, Fatma Arzu, vd. “Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency”. Genel Tıp Dergisi, c. 36, sy 2026, Mart 2026, ss. 1-6, doi:10.54005/geneltip.1808445.
Vancouver
1.Fatma Arzu Akkuş, Fatih Çölkesen, Tuğba Önalan, Mehmet Emin Gerek, Filiz Sadi Aykan, Emine Göktaş, Şevket Arslan. Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency. Genel Tıp Derg. 01 Mart 2026;36(2026):1-6. doi:10.54005/geneltip.1808445