Quality of life in common variable immunodeficiency: Assessing the impact of distinct clinical phenotypes

Background: Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency in adults, characterized by reduced serum immunoglobulin levels and impaired specific antibody responses. While immunoglobulin replacement therapy improves infection control, it has limited impact on phenotypic complications such as autoimmunity, polyclonal lymphoproliferation, enteropathy, and cytopenias, which may substantially affect patients’ quality of life (QoL). This study aimed to evaluate the relationship between distinct clinical phenotypes of CVID and QoL using the disease-specific CVID-QoL questionnaire. Materials and methods: This cross-sectional study included 30 adult CVID patients followed at the Immunology Clinic of Erciyes University Faculty of Medicine, diagnosed according to European Society for Immunodeficiencies criteria, and receiving regular intravenous immunoglobulin therapy. Demographic and clinical data were obtained retrospectively from medical records. Patients were classified into clinical phenotypes—uncomplicated, cytopenia, polyclonal lymphocytic inflammation (PLI), and enteropathy—based on dominant presentation at diagnosis. QoL was assessed using the CVID-QoL, which evaluates emotional functioning (EF), relational functioning (RF), and gastrointestinal/skin symptoms (GSS). Statistical analyses compared QoL scores across phenotypes. Results: The cohort comprised 16 females (53.3%) and 14 males (46.7%), with a mean age of 36.1 ± 11.2 years and a mean diagnostic delay of 11.7 ± 9.7 years. The most common phenotype was PLI (46.6%), followed by uncomplicated (36.6%), cytopenia (23.3%), and enteropathy (16.6%). Seven patients (23.3%) had 2 phenotypes simultaneously. Enteropathy phenotype was associated with significantly higher GSS scores ( P = 0.020). Patients with 2 phenotypes had significantly worse total CVID-QoL, EF, and GSS scores ( P = 0.006, 0.003, and 0.002, respectively), while RF scores were unaffected. Conclusion: Clinical phenotypes in CVID influence QoL to varying extents, with enteropathy and multiple concurrent phenotypes showing the greatest negative impact. These findings highlight the need for phenotype-based monitoring and targeted interventions to address both infection control and broader QoL determinants in CVID management.