Shared Decision-Making and Health-Related Quality of Life in the Diagnosis and Management of Patients With Inborn Errors of Immunity.

Abstract

Inborn errors of immunity (IEI) are associated with substantial physical, psychological, and socioeconomic burdens that extend beyond recurrent infections and significantly affect health-related quality of life (HRQOL). Advances in diagnostics, including increased access to newborn screening and genetic testing, along with treatment advances have made patient-reported outcomes and shared decision-making (SDM) increasingly important components of comprehensive IEI care. The recently updated IEI practice parameters recommend routine assessment of HRQOL and perceived health, and the incorporation of SDM into clinical care. Validated general HRQOL instruments, including Short-Form 36, Pediatric Quality of Life Inventory, Patient-Reported Outcome Measurement Information System tools, and disease-specific measures such as the Common Variable Immunodeficiency Quality of Life and Primary Antibody Deficiency Quality of Life questionnaires, facilitate systematic assessment of patient experiences and priorities. This review highlights the role of SDM across several key areas of IEI care, including newborn screening for severe combined immunodeficiency, genetic testing, decisions regarding prophylactic antibiotics and immunoglobulin replacement therapy, IFN-γ treatment in chronic granulomatous disease, and hematopoietic stem cell transplantation. These clinical contexts illustrate the importance of balancing medical considerations with patient and family values, psychosocial concerns, treatment burden, financial implications, and long-term quality of life.