• 作者：P. Guisado Vasco ; ^{pg_vasco@yahoo.es} ; G. Fraile Rodrí ; guez ; S. Arechaga Uriarte
• 关键词：Sí ; ndrome de la hipergammaglobulinemia IgE ; Cé ; lulas Th17 ; Proteí ; na transductora de señ ; al y activadora de la transcripci&oacute ; n 3 (STAT3) ; Gen tirosin-cinasa 2 (TyK2) ; Mutaci&oacute ; n de DOCK8 ; HIES autos&oacute ; mico recesivo
• 刊名：Revista Cl铆nica Espa帽ola
• 出版年：2011
• 期刊代码：pca307_00142565
• 类别：med
• 出版时间：November 2011
• 卷：211
• 期：10
• 页码：520-526
• 文件大小：139 K

Hyper-IgE recurrent infection syndrome is an uncommon primary immunodeficiency characterized by high serum levels of total IgE, eczema-like dermatitis, recurrent skin abscesses and staphylococci pneumonias, which can produce abscesses with mild inflammatory signs. It also causes dental, musculoskeletal and connective tissue abnormalities. The classical (type 1) variation is caused by autosomal-dominant mutations in signal transducer and activator of transcription 3. An incomplete form (type 2) has been described with only the immunological manifestations, but without the mesenchymal manifestations, has been described. This incomplete form is caused by recessive mutations in the tyrosine kinase 2 gene. Both kinds of mutations produce deficient formation of Th17-cells. These advances in the genetic and immunologic knowledge of hyper-IgE recurrent infection syndrome have allowed a better clinical comprehension of the clinical phenomena of the disease.