Clinical Insight of Cytokine Panel Testing in Patients with Inborn Errors of Immunity

Background Cytokines play an important role in Th1 and Th2 inflammation. Both Th1 and Th2 cytokines can be utilized for evaluation and treatment response in many different disorders, including inborn errors of immunity. The role of broad cytokine panel testing in inborn errors of immunity is not well described. Objective To analyze broad cytokine panel testing in clinical practice. Methods A retrospective review of cytokine panel testing performed at Mayo Clinic was performed. Data were collected from patients at Mayo Clinic Rochester, Mayo Clinic Jacksonville, and Mayo Clinic Health System. Serum cytokine panel testing included the following cytokines: tumor necrosis factor (TNF), IL-6, IFN-β, IL-10, monocyte chemoattractant protein-1 (MCP-1), IL-1β, IFN-γ, macrophage inflammatory protein-1 alpha (MIP-1α), granulocyte-monocyte colony-stimulating factor (GM-CSF), IL-2 receptor α soluble, IFN-α, and IL-18. Data collection ranged from 03/2021 to 09/2024. The study was funded by Mayo CCaTS grant number UL1TR002377. Results A total of 88 cytokine panel tests were performed during the study period on 80 total patients. There was at least 1 elevated cytokine level in 70/88 (80%) tests performed. There was elevation in each individual cytokine level as follows: TNF (49), IL-2 receptor α soluble (40), IFN-α (0), IL-18 (26), IL-6 (33), IFN-β (4), IL-10 (13), MCP-1 (18), IL-1β, IFN-γ (11), MIP-1α (12), and GM-CSF (6). 18 patients that underwent cytokine panel testing had common variable immune deficiency (CVID), and 10 of those patients had granulomatous lymphocytic interstitial lung disease. 6 patients with early onset inflammatory bowel disease, 5 patients with autoimmune lymphoproliferative syndrome, 2 patients with Myhre syndrome, 2 patients with Hyper IgE syndrome, 1 patient with hypereosinophilic syndrome, 1 patient with autoimmune polyglandular syndrome type 1, 1 patient with XIAP deficiency, 1 patient with X-linked chronic granulomatous disease, and 1 patient with STAT 1 gain of function were tested. Other patients tested had other medical diagnoses or were undergoing immunodeficiency evaluation. There was no significant increase noted in any individual cytokine level when compared with the whole cohort. Conclusion Cytokine panel testing could be a potential diagnostic tool in evaluation of inborn errors of immunity. Further research is needed to better characterize the importance of cytokine panel testing in inborn errors of immunity.