title: Investigation of Skin Barrier Functions and Allergic Sensitization in Patients with Hyper-IgE Syndrome.
abstract: OBJECTIVE
  Hyper-IgE syndrome (HIES) is a severe primary immunodeficiency, characterized by increased serum IgE levels as well as recurrent infections and atopic dermatitis (AD)-like skin lesions. AD is a chronic inflammatory skin disease with immunologic alterations (Th2-Th22 polarization) and characteristic skin barrier dysfunctions. Our aim was to investigate physicochemical skin barrier alterations and allergic sensitization in STAT3-HIES patients in order to explore whether skin barrier dysfunction can play a role in the eczematoid skin lesions in these patients.
  
  
  METHODS
  In our experiments STAT3 and FLG mutation analyses were performed in STAT3-HIES (n = 7) and AD (n = 49) patients. Laboratory parameters (LDH and Eos counts), immunologic alterations (Th17 cell counts), allergic sensitization (total and specific IgE levels, skin prick tests, and medical history records), skin barrier changes [transepidermal water loss (TEWL), skin pH], serum and stratum corneum thymic stromal lymphopoietin (TSLP) levels were also examined.
  
  
  RESULTS
  Impaired Th17 cell numbers, but normal physicochemical barrier functions, as well as serum and stratum corneum TSLP levels, were found in STAT3-HIES, while these parameters were significantly altered in AD patients. Allergic sensitization was detected in nearly all AD patients, while no signs of sensitization occurred in STAT3-HIES.
  
  
  CONCLUSIONS
  Our study demonstrated that the skin barrier functions of STAT3-HIES patients are not damaged and they differ significantly from the altered skin barrier functions of AD patients. A well-functioning physicochemical skin barrier may be one of the explanations on the contradiction between the extremely high total IgE levels and the lack of allergic sensitization in these patients. Our study underlines the importance of skin barrier in the development of allergic sensitization.
authors.affiliation: Division of Dermatological Allergology, Faculty of Medicine, University of Debrecen, Nagyerdei krt. 98., Debrecen, 4032, Hungary.|Department of Dermatology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Gábor
authors.initials: G
authors.lastname: Mócsai
authors.affiliation: Division of Dermatological Allergology, Faculty of Medicine, University of Debrecen, Nagyerdei krt. 98., Debrecen, 4032, Hungary.|Department of Dermatology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Krisztián
authors.initials: K
authors.lastname: Gáspár
authors.affiliation: Division of Dermatological Allergology, Faculty of Medicine, University of Debrecen, Nagyerdei krt. 98., Debrecen, 4032, Hungary.|Department of Dermatology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Dajnoki
authors.affiliation: Department of Infectious and Pediatric Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Beáta
authors.initials: B
authors.lastname: Tóth
authors.affiliation: Institute of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Edit
authors.initials: E
authors.lastname: Gyimesi
authors.affiliation: DE-MTA "Lendület" Cellular Physiology Research Group, Department of Physiology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Tamás
authors.initials: T
authors.lastname: Bíró
authors.affiliation: Department of Infectious and Pediatric Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: László
authors.initials: L
authors.lastname: Maródi
authors.affiliation: Division of Dermatological Allergology, Faculty of Medicine, University of Debrecen, Nagyerdei krt. 98., Debrecen, 4032, Hungary. aszegedi@med.unideb.hu.|Department of Dermatology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. aszegedi@med.unideb.hu.
authors.forename: Andrea
authors.initials: A
authors.lastname: Szegedi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016207:Cytokines / Q000378:metabolism; D003876:Dermatitis, Atopic / Q000276:immunology*; D005260:Female; D000091344:Filaggrin Proteins; D006801:Humans; D007114:Immunization; D007073:Immunoglobulin E / Q000097:blood; D007239:Infections / Q000276:immunology*; D007378:Interleukins / Q000378:metabolism; D007589:Job Syndrome / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics; D050796:STAT3 Transcription Factor / Q000235:genetics*; D012867:Skin / Q000378:metabolism* / Q000473:pathology; D055815:Young Adult; D000094632:Thymic Stromal Lymphopoietin; D000097043:Interleukin-22
chemical_list: D016207:Cytokines; D000091344:Filaggrin Proteins; D007073:Immunoglobulin E; D007378:Interleukins; D051496:Receptor, Fibroblast Growth Factor, Type 1; D050796:STAT3 Transcription Factor; D000094632:Thymic Stromal Lymphopoietin; D000097043:Interleukin-22; C000717249:FLG protein, human
keywords: Atopic dermatitis; filaggrin; hyper-IgE syndrome; skin barrier