1Section of Allergy, Asthma and Immunology, Penn State, Milton S. Hershey Medical Center MCH0401, Hershey, PA 2Penn State, Milton S. Hershey Medical Center, School of Medicine, Hershey, PA.
World Allergy Organ J. 2012 Jul;5(7):79-87. doi: 10.1097/WOX.0b013e31825a73b2.
: Hyper-IgE syndrome is a primary immunodeficiency marked by abnormalities in the coordination of cell-cell signaling with the potential to affect TH17 cell, B cell, and neutrophil responses. Clinical manifestations include recurrent skin and lung infections, serum IgE elevation, connective tissue repair and development alterations, and the propensity for vascular abnormalities and tumor development. Signal transducer and activator of transcription 3 (STAT3) signaling, dedicator of cytokinesis 8 (DOCK8) signaling, and tyrosine kinase 2 (TYK2) signaling alterations have been implicated in 3 forms of hyper-IgE syndrome.
高免疫球蛋白 E 综合征是一种以细胞间信号协调异常为特征的原发性免疫缺陷病，有可能影响 TH17 细胞、B 细胞和中性粒细胞的反应。临床表现包括反复的皮肤和肺部感染、血清 IgE 升高、结缔组织修复和发育改变，以及血管异常和肿瘤发展的倾向。信号转导子和转录激活子 3（STAT3）信号、胞质分裂 dedicator 8（DOCK8）信号和酪氨酸激酶 2（TYK2）信号的改变与高免疫球蛋白 E 综合征的 3 种形式有关。
