Health Related Quality of Life in Children with Primary Immune Deficiency Diseases

Background: Primary immunodeficiency diseases (PID) represent a heterogeneous group of inherited disorders that compromise the immune system, predisposing affected individuals to recurrent infections, autoimmunity, and other complications. As advances in diagnosis and management extend the lifespan of these patients, there is growing recognition of the importance of evaluating their health-related quality of life (HRQoL). This study aimed to assess HRQoL in children diagnosed with PID compared to age- and sex-matched healthy ones. Methods: This case-control study aimed to assess HRQoL in children diagnosed with PID compared to age- and sex-matched healthy peers. Conducted at the Primary Immunodeficiency Unit of Zagazig University Hospitals from August 2020 to February 2024, the study enrolled 51 children with PID and 51 healthy controls. Results: Children with PID showed significantly lower total HRQoL scores than controls, both in self-reports and parent-reported assessments (p<0.001). All four functional domains were notably affected. Familial Mediterranean Fever (FMF) was the most common diagnosis among cases (56.9%), and it showed a strong association with reduced QoL scores (p=0.0001). Parent-reported physical functioning correlated positively with age (r=0.363, p=0.009), and older children (13–18 years) showed better physical domain scores than younger age groups. Conclusion: The study highlights the considerable impact of PID on children’s daily lives and overall well-being. These findings underscore the need for integrated care approaches that not only address clinical management but also focus on enhancing the quality of life for affected children and their families