Determining the role of DOCK8 in CD4+ T and B cell differentiation and its implications on autosomal recessive hyper IgE syndrome (AR-HIES)

DOCK8基因突变引起的常染色体隐性遗传性高IgE(AR-HIEs)综合征是一种罕见的原发免疫缺陷，患者易患严重和反复的病毒感染，并增加患癌症的风险，严重的食物和环境过敏，以及以高IgE和极端嗜酸性粒细胞为特征的特应性疾病。这项资助将调查CD4+T细胞和B细胞中DOCK8功能异常如何与AR-HIEs患者的疾病发病机制有关。

Autosomal recessive hyper IgE (AR-HIES) syndrome due to mutations in DOCK8 is a rare primary immunodeficiency whereby patients present with susceptibility to severe and recurrent viral infections as well as an increased risk of developing cancer, severe food and environmental allergies, and atopic disease characterised by hyper IgE and extreme eosinophilia. This grant will investigate how abnormal DOCK8 function in CD4+ T cells and B cells contributes to disease pathogenesis in AR-HIES patients.