Diagnosis of DOCK8 deficiency using Flow cytometry Biomarkers: an Egyptian Center experience

Abstract In the past few years, several genes were shown to be implicated in various forms of the Hyper Immunoglobulin Esyndrome. The present study is the first to describe a cohort of DOCK8deficiency patients from Egypt. The study included 15 patients with features of combined immunodeficiency(CID) suggestive of DOCK8deficiency. Flow cytometrywas used for evaluation of DOCK8expression and studying different immunological characteristics of those patients including evaluation of Th17, Tregs, T and B lymphocytes differentiation and the effect of the DOCK8deficiency on the activation of the STAT3. Diagnosis was confirmed by mutational analysis. Profound defects in Th17 cells and Tregs were observed in all patients with impaired STAT3phosphorylation, indicating that DOCK8plays a pivotal role in the STAT3signaling pathway. These findings together with decrease in memory B cellsand defective DOCK8expression by flow cytometrycan confirm the diagnosis.