The Hyper-IgE Syndromes: Lessons in Nature, From Bench to Bedside

World Allergy Organization Journal

Jonathan J McClain¹  Robert T Marshall¹  Efren L Rael² 

[1] Penn State, Milton S. Hershey Medical Center, School of Medicine, Hershey, PA;Section of Allergy, Asthma and Immunology, Penn State, Milton S. Hershey Medical Center MCH0401, 500 University Drive, Hershey, PA 17033-2360

关键词: immunodeficiency;    Hyper-IgE syndrome;    Job syndrome;    T_H17;    TYK2;    DOCK8;    STAT3;   

Others  :  1137682
DOI  :  10.1097/WOX.0b013e31825a73b2

【 摘 要 】

Hyper-IgE syndrome is a primary immunodeficiency marked by abnormalities in the coordination of cell-cell signaling with the potential to affect T_H17 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.

【 授权许可】

   
2012 World Allergy Organization; licensee BioMed Central Ltd.

【 图 表 】

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