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

Abstract

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.