title: Cutaneous manifestations of Hyper IgE syndrome.
abstract: Hyper-IgE syndrome (HIES) is a primary immunodeficiency disorder characterized by atopic manifestations and susceptibility to infections with extracellular bacteria and fungi. Atopic manifestations include atopic dermatitis-like skin lesion and extremely high serum IgE levels. Most of the extracellular bacterial infections are caused by Staphylococcus aureus, which is associated with milder inflammation compared to normal. Recent studies have revealed that the most cases of the HIES are caused by dominant negative mutations in STAT3 gene. Cutaneous manifestations of HIES includes newborn rash, eczematoid dermatitis, cold abscesses, mucocutaneous candidiasis, and coarse texture of the facial skin. Impaired Th17 cell development due to the defective IL-6 signaling in T cells and impaired induced regulatory T (iTreg) cell generation due to defective IL-10 signaling in dendritic cells may, at least in part, account for the cutaneous pathology of HIES.
authors.affiliation: Department of Immune Regulation, Tokyo Medical and Dental University Graduate School, Tokyo, Japan. yminegishi.mbch@tmd.ac.jp
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Minegishi
authors.forename: Masako
authors.initials: M
authors.lastname: Saito
mesh_terms: D000818:Animals; D002177:Candidiasis / Q000209:etiology / Q000235:genetics / Q000276:immunology*; D003876:Dermatitis, Atopic / Q000209:etiology / Q000235:genetics / Q000276:immunology*; D004198:Disease Susceptibility; D006801:Humans; D007073:Immunoglobulin E / Q000096:biosynthesis; D016753:Interleukin-10 / Q000276:immunology; D015850:Interleukin-6 / Q000276:immunology; D007589:Job Syndrome / Q000150:complications / Q000235:genetics / Q000276:immunology*; D051379:Mice; D009154:Mutation / Q000235:genetics; D050796:STAT3 Transcription Factor / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D015398:Signal Transduction / Q000235:genetics / Q000276:immunology; D013203:Staphylococcal Infections / Q000209:etiology / Q000235:genetics / Q000276:immunology*; D050378:T-Lymphocytes, Regulatory / Q000276:immunology; D058504:Th17 Cells / Q000276:immunology
chemical_list: D015850:Interleukin-6; D050796:STAT3 Transcription Factor; D016753:Interleukin-10; D007073:Immunoglobulin E