Psychological Symptoms in Patients with Inborn Errors of Immunity and Their Family Members: A Cross-Sectional Study

Background and Objectives: Inborn errors of immunity (IEI), also referred to as primary immunodeficiencies, are chronic conditions characterized by recurrent infections and long-term treatment requirements that may adversely affect psychological well-being. Although mental health outcomes in patients with IEI have been increasingly recognized, data regarding the psychological impact on family members remain limited. This study aimed to evaluate anxiety and depressive symptoms in patients with IEI and their family members compared with healthy controls and to examine the association of sociodemographic and clinical factors with anxiety and depressive symptom scores. Materials and Methods: A total of 375 participants were included, comprising 34 patients with IEI, 102 family members, and 239 healthy controls. Anxiety and depressive symptoms were assessed using the Beck Anxiety Inventory (BAI) and the Beck Depression Inventory (BDI). Group comparisons were performed using non-parametric statistical tests. Multivariable linear regression analyses were conducted to identify independent predictors of anxiety and depressive symptoms. The internal consistency of the scales was evaluated using Cronbach's alpha, McDonald's omega, and Guttman's lambda-2 coefficients. Results: Both patients with IEI and their family members demonstrated significantly higher BAI and BDI scores than healthy volunteers in the unadjusted comparisons (all p < 0.001), with no statistically significant differences between patients and relatives. After multivariable adjustment using HC3 robust standard errors, healthy volunteers had significantly lower BAI and BDI scores than patients with IEI. Patient relatives had significantly lower BDI scores, but their adjusted BAI scores did not differ significantly from those of patients. Female sex remained independently associated only with higher BAI scores. The BAI and BDI showed excellent internal consistency, with all reliability coefficients exceeding 0.90. Conclusions: Patients with IEI and their family members had higher anxiety and depressive symptom scores than healthy volunteers. Although patients and relatives had comparable BAI and BDI scores in the unadjusted comparisons, adjusted analyses showed significantly lower BDI scores among relatives, whereas the adjusted BAI difference was not statistically significant. Healthy volunteers had significantly lower adjusted BAI and BDI scores than patients, and female sex was independently associated with higher BAI scores. These findings support consideration of psychological well-being at both the patient and family levels in IEI, although the cross-sectional design precludes causal inference.