In the past few years, several genes were shown to be implicated in various forms of the Hyper Immunoglobulin E syndrome. The present study is the first to describe a cohort of DOCK8 deficiency patients from Egypt. The study included 15 patients with features of combined immunodeficiency (CID) suggestive of DOCK8 deficiency. Flow cytometry was used for evaluation of DOCK8 expression and studying different immunological characteristics of those patients including evaluation of Th17, Tregs, T and B lymphocytes differentiation and the effect of the DOCK8 deficiency 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 STAT3 phosphorylation, indicating that DOCK8 plays a pivotal role in the STAT3 signaling pathway. These findings together with decrease in memory B cells and defective DOCK8 expression by flow cytometry can confirm the diagnosis.

在过去的几年中，一些基因被证明与多种形式的高免疫球蛋白E综合征有关。本研究是第一个描述来自埃及的DOCK8缺乏症患者队列的研究。该研究纳入了15名具有联合免疫缺陷（CID）特征的患者，提示DOCK8缺乏。流式细胞仪用于评估DOCK8的表达并研究这些患者的不同免疫学特征，包括评估Th17，Treg，T和B淋巴细胞的分化以及DOCK8缺乏对STAT3活化的影响。通过突变分析确认诊断。

在所有STAT3磷酸化受损的患者中均观察到Th17细胞和Tregs的严重缺陷，这表明DOCK8在STAT3信号通路中起关键作用。这些发现与记忆B细胞的减少以及流式细胞仪检测到的DOCK8表达缺陷可以确诊。