Good 综合征患者血液免疫特征的深度分析

Here, we used high-sensitive flow cytometry to investigate the distribution of up to 70 different immune cell populations in blood of GS patients (n=9) compared to age-matched CVID patients (n=55) and healthy donors (n=61).

All 9 GS patients displayed reduced B-cell counts -down to undetectable levels (<0.1 cells/ L) in 8/9 cases-, together with decreased numbers of total CD4 + T-cells, NK-cells, neutrophils, and basophils vs. age-matched healthy donors. In contrast, they showed expanded TCR + T-cells (p 0.05). Except for a deeper B-cell defect, the pattern of immune cell alteration in blood was similar in GS and (age-matched) CVID patients. In depth analysis of CD4 + T-cells revealed significantly decreased blood counts of na ve, central memory (CM) and transitional memory (TM) TCD4 + cells and their functional compartments of T follicular helper (TFH), regulatory T cells (Tregs), T helper (Th)2, Th17, Th22, Th1/Th17 and Th1/Th2 cells. In addition, GS patients also showed decreased NK-cell, neutrophil, basophil, classical monocyte and of both CD1c + and CD141 + myeloid dendritic cell counts in blood, in parallel to an expansion of total and terminal effector TCR + T-cells. Interestingly, those GS patients who developed hypogammaglobulinemia several years after the thymoma presented with an immunological and clinical phenotype which more closely resembled a combined immune humoral and cellular defect, with poorer response to immunoglobulin replacement therapy, as compared to those in whom the thymoma and hypogammaglobulinemia were simultaneously detected. DISCUSSION: Our findings provide a more accurate definition of the immune cell defects of GS patients and contribute to a better discrimination among GS patients between those with a pure B-cell defect vs . those suffering from a combined immunodeficiency with important consequences on the diagnosis and management of the disease.