Academic Journal
Prevalence, associated clinical factors, and genetic characteristics of endocrinopathies in common variable immunodeficiency: a retrospective study of 95 adult patients from a single tertiary care center.
| Τίτλος: | Prevalence, associated clinical factors, and genetic characteristics of endocrinopathies in common variable immunodeficiency: a retrospective study of 95 adult patients from a single tertiary care center. |
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| Συγγραφείς: | Yigitdol I; Division of Clinical Immunology and Allergy, Department of Internal Medicine, Necmettin Erbakan University, Faculty of Medicine, Konya, Türkiye., Colkesen F; Division of Clinical Immunology and Allergy, Department of Internal Medicine, Necmettin Erbakan University, Faculty of Medicine, Konya, Türkiye., Gerek ME; Division of Clinical Immunology and Allergy, Department of Internal Medicine, Necmettin Erbakan University, Faculty of Medicine, Konya, Türkiye., Yilmaz Ergun U; Division of Clinical Immunology and Allergy, Department of Internal Medicine, Necmettin Erbakan University, Faculty of Medicine, Konya, Türkiye., Kolak S; Division of Clinical Immunology and Allergy, Department of Internal Medicine, Necmettin Erbakan University, Faculty of Medicine, Konya, Türkiye., Harman E; Division of Clinical Immunology and Allergy, Department of Internal Medicine, Necmettin Erbakan University, Faculty of Medicine, Konya, Türkiye., Sagun F; Division of Clinical Immunology and Allergy, Department of Internal Medicine, Necmettin Erbakan University, Faculty of Medicine, Konya, Türkiye., Aslan Savas S; Division of Clinical Immunology and Allergy, Department of Internal Medicine, Necmettin Erbakan University, Faculty of Medicine, Konya, Türkiye., Arslan S; Division of Clinical Immunology and Allergy, Department of Internal Medicine, Necmettin Erbakan University, Faculty of Medicine, Konya, Türkiye. |
| Πηγή: | Frontiers in immunology [Front Immunol] 2026 Aug 24; Vol. 17, pp. 1882721. Date of Electronic Publication: 2026 Aug 24 (Print Publication: 2026). |
| Τύπος έκδοσης: | Journal Article; Observational Study |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: [Lausanne : Frontiers Research Foundation] |
| Ιατρικοί όροι (MeSH): | Common Variable Immunodeficiency*/epidemiology , Common Variable Immunodeficiency*/genetics , Common Variable Immunodeficiency*/complications , Common Variable Immunodeficiency*/immunology , Endocrine System Diseases*/epidemiology , Endocrine System Diseases*/genetics , Endocrine System Diseases*/etiology, Glucocorticoids/adverse effects ; Humans ; Female ; Male ; Retrospective Studies ; Adult ; Prevalence ; Middle Aged ; Tertiary Care Centers ; Aged ; Young Adult |
| Περίληψη: | Background: Common variable immunodeficiency (CVID) is the most common clinically significant primary antibody deficiency in adults, characterized by impaired immunoglobulin production and recurrent infections. Endocrinopathies represent a substantial burden in inborn errors of immunity, with reported prevalence rates of approximately 27-32.5%. Existing literature on CVID has focused mainly on autoimmune endocrinopathies, and no study has specifically evaluated endocrine disorders in adult CVID patients. This gap is clinically important because these patients may have non-autoimmune endocrinopathies as well as glucocorticoid -induced endocrinopathies due to long-term steroid therapy. We aimed to evaluate endocrinopathies in adult CVID patients and identify associated factors and genetic characteristics. Methods: This single-center retrospective observational study included 95 adult patients diagnosed with CVID who were followed at the Immunology and Allergy Diseases Clinic of Necmettin Erbakan University Faculty of Medicine between January 1, 2019, and December 31, 2025. The prevalence, associated clinical factors and generic characteristics of CVID patients with endocrinopathy were analyzed. Results: Among 95 CVID patients, 32(33.7%) had ≥1 endocrinopathy; 12 were glucocorticoid-induced. Patients with endocrinopathy had higher age, BMI, autoimmunity prevalence, prior glucocorticoid use, IgA levels, and switched memory B cells while bronchiectasis was more frequent in those without endocrinopathy. In multivariate logistic regression analysis, BMI, autoimmunity, and switched memory B-cell percentage were identified as independent predictors of endocrinopathy. Autoimmunity was the strongest predictor (OR: 12.812,95% CI:3.855-42.585). Among patients with endocrinopathies independent of glucocorticoid exposure, 5 patients had pathogenic/likely pathogenic variants, 1 likely benign, and 11 VUS; implicated genes included TNFRSF13B, IKZF1, ADA2 and MEFV. Conclusion: Endocrinopathies-including autoimmune, non-autoimmune, and glucocorticoid-induced disorders-represent a significant clinical burden in adult CVID patients. Larger multicenter studies are needed to further elucidate these complications. (Copyright © 2026 Yigitdol, Colkesen, Gerek, Yilmaz Ergun, Kolak, Harman, Sagun, Aslan Savas and Arslan.) |
| Competing Interests: | The author(s) declared that this work was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. |
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| Contributed Indexing: | Keywords: autoimmunity; common variable immunodeficiency(CVID); endocrinopathy; genetic variant; glucocorticoid -induced |
| Substance Nomenclature: | 0 (Glucocorticoids) |
| Entry Date(s): | Date Created: 20260908 Date Completed: 20260908 Latest Revision: 20260911 |
| Update Code: | 20260912 |
| PubMed Central ID: | PMC13547094 |
| DOI: | 10.3389/fimmu.2026.1882721 |
| PMID: | 42707139 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1664-3224 |
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| DOI: | 10.3389/fimmu.2026.1882721 |