Background: Patient-reported quality of life measurements are an important method for improving the treatment of patients with a variety of diseases. These tools have been minimally investigated in patients with inborn errors of immunity (IEI). Patients with IEI may have immune dysregulation and autoimmune-mediated multi-system organ involvement, making treatment optimization vitally important. Routine laboratory and radiologic testing are typically used for treatment monitoring; however, these modalities have the potential to miss early organ damage. T follicular helper cells are T cells that contribute to antibody production and are known to be expanded in patients with active autoimmunity. We hypothesized that a combination of patient-reported quality of life measurements, in addition to T follicular helper cell percentages, would help us to better understand the level of disease activity in patients with IEI and autoimmunity.
Methods: Patients with immune dysregulation were consented to provide a blood sample and to complete a questionnaire. The Centers for Disease Control HRQOL-14 tool was utilized for the questionnaire portion, and T follicular helper cell levels were measured from whole blood using surface staining and flow cytometry analysis. Patient disease activity was abstracted from the patient medical record, and this was compared to the questionnaire and whole blood assay results.
Results: A total of 20 patients participated in the study; 8 patients had active disease and the remaining were found to be quiescent. There was no significant difference between the patient-reported general health ratings based on sex, age, disease activity, or category of immune dysregulation (p > 0.05). The cTfh percentages were expanded in patients with active disease as compared to those with quiescent (p < 0.05). However, there was no significant correlation between cTfh percentage and patient-reported unhealthy days from the questionnaire (R2 = 0.113, p > 0.05).
Conclusions: Patients with active immune dysregulation were found to have expanded cTfh percentages as compared to those with quiescent disease, however this was not reflected in patient-reported quality of life questionnaires. Better understanding of disease activity and the patient experience is vital to optimize appropriate treatments and outcomes for patients with IEI and immune dysregulation, and more investigation is needed.
Keywords: Immune dysregulation; Quality of life; T follicular helper cell.