Gene signature of regulatory T cells isolated from children with Selective IgA Deficiency and Common Variable Immunodeficiency.

In our study we aimed to analyze the gene expression profile of Treg cells in CVID and SIgAD patients, compared to age-matched healthy controls. Selective IgA deficiency (SIgAD) is the most common and common variable immunodeficiency (CVID) is the most symptomatic form of predominant antibody deficiency. Despite differences in the clinical picture, a similar genetic background is suggested. A common feature of both disorders is the occurrence of autoimmune conditions. Regulatory T cells (Tregs) are the major immune cell type that maintains autoimmune tolerance. As the different types of abnormalities of Treg cells were associated with autoimmune disorders in primary immunodeficiency (PID) patients, in our study we aimed to analyze the gene expression profile of Treg cells in CVID and SIgAD patients, compared to age-matched healthy controls. The transcriptome-wide gene profiling was performed using microarray technology. As a results, we analyzed and visualized global expression patterns of genes and pathways of isolated population of Treg cells. We showed the differences at gene-level between patients with and without autoimmunizations. Our finding suggest that gene signature of Treg cells isolated from SIgAD and CVID patients differ from age-matched healthy controls and form each other, while the occurrence of autoimmunity in both PID is associated with IFN signaling pathway. In sum, our findings improve our understanding of Treg dysfunctions in patients with common PIDs and associated autoimmunity. The transcriptome-wide gene profiling was performed using microarray technology. As a results, we analyzed and visualized global expression patterns of genes and pathways of isolated population of Treg cells.