D1.432 - Association Between Autoimmunity and Endocrinopathy in Patients with Common Variable Immunodeficiency

Common Variable Immunodeficiency (CVID) is the most common symptomatic primary antibody deficiency in adults, characterized by impaired immunoglobulin production and recurrent infections, with an estimated prevalence of 1 in 25,000. The term “variable” reflects its marked clinical heterogeneity, encompassing recurrent sinopulmonary infections, chronic lung disease, autoimmunity, gastrointestinal involvement, and increased lymphoma risk. Autoimmune complications affect approximately 25–33% of patients, while endocrinopathies have been reported in up to 32.5% of adult primary immunodeficiency cohorts. Despite this substantial burden, data on the relationship between autoimmunity and endocrinopathy in CVID remain limited. This study aims to characterize the spectrum of endocrinopathies in CVID and to evaluate their association with autoimmunity, considering both primary autoimmune endocrine involvement and secondary effects related to prolonged glucocorticoid therapy.

This single-center, descriptive cross-sectional study included 95 adult patients diagnosed with Common Variable Immunodeficiency (CVID) according to ESID/ICON criteria and followed at the Necmettin Erbakan University Department of Immunology and Allergy Diseases. Medical records were retrospectively reviewed between December 1, 2025, and January 1, 2026. Demographic characteristics, age at diagnosis, and comorbidities present as of January 1, 2026, were recorded and compared between patients with and without endocrinopathy.

Among the 95 CVID patients, 32 (33.6%) had at least one endocrinopathy (Table 1). Type 2 diabetes mellitus (43.8%) and primary hypothyroidism (40.6%) were the most common (Figure 1). Of these 32 patients, 19 (59.4%) had concomitant autoimmunity.Compared with those without endocrinopathy, affected patients had significantly higher mean current age and age at diagnosis, as well as higher rates of autoimmunity, prior glucocorticoid use, and higher serum immunoglobulin A (IgA) levels (Table 1). Bronchiectasis was more frequent in patients without endocrinopathy.In multivariate logistic regression, autoimmunity was an independent predictor of endocrinopathy (OR: 6.100, 95% CI: 1.800–20.667, p = 0.004), whereas prior glucocorticoid use and rheumatic disease were not. Bronchiectasis was independently associated with lower odds of endocrinopathy (OR: 0.291, 95% CI: 0.087–0.969, p = 0.044).

In our cohort, 33.6% of CVID patients had at least one endocrinopathy, consistent with previous reports (~32%) in inborn errors of immunity. Patients with endocrinopathy were older at diagnosis and had higher rates of autoimmunity, whereas bronchiectasis—reflecting the infection-dominant phenotype—was more common in those without endocrinopathy. Although both autoimmunity and prior glucocorticoid use were more frequent in the endocrinopathy group, multivariate analysis identified only autoimmunity as an independent predictor. These findings indicate that endocrinopathy risk in CVID is primarily driven by immune dysregulation rather than steroid exposure. Routine endocrine screening in CVID patients with autoimmunity is therefore warranted, and larger prospective studies are needed to clarify underlying mechanisms.