Health Care Utilization and Morbidity in Patients with Genetically Confirmed Primary Immune Regulatory Disorders

Primary immune regulatory disorders (PIRDs) are inborn errors of immunity that result in a wide spectrum of immune dysregulation. PIRD can manifest as autoimmunity, hyperinflammation, lymphoproliferation, malignancy, and severe atopy. Genetic diagnosis in PIRD patients is usually translated to precision therapies which have the advantage of fewer global immunosuppressive effects and increased survival rates. The objective of this study was to describe and compare the clinical manifestations and healthcare resource utilization (HCRU) of patients with PIRD diagnosis. This retrospective chart review assessed the burden of HCRU for PIRD patients followed at Texas Children’s Hospital over a period of ten years. One-year pre- and post-diagnosis data were collected and compared for each patient with genetically confirmed PIRD. The data included clinical manifestations such as infectious and noninfectious manifestations (NIMs) of the disease and HCRU such as outpatient clinic and emergency care visits, inpatient admissions, procedures, imaging studies, medical technology use, and medication use. A total of 25 patients met chart review criteria. The comparison of 1-year pre- versus 1-year post-PIRD diagnosis revealed some positive clinical and economic results. Clinically, an overall decrease in infections was observed in the post-diagnosis period, especially for sinopulmonary infections. Cytopenias, lymphoproliferation, and inflammatory end organ manifestations, all decreased, including a statically significant decrease in patients who received hematopoietic stem cell transplantation. Regarding HCRU, a significant decrease in emergency care visits was noted, while increments in medication use and outpatient clinic visits were observed. This research confirms the improvement in clinical manifestations in patients with a genetically confirmed PIRD diagnosis. Furthermore, it also provides the first comprehensive assessment of HCRU in this population. Although there were no significant reductions in overall HCRU in the first 12 months post-diagnosis, the observed changes suggest improved patient care, potentially leading to better outcomes and reduced HCRU over time.