title: The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency.
abstract: The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities--the classical hyper-IgE syndrome which is inherited in an autosomal dominant pattern and the autosomal recessive hyper-IgE syndrome--have been recognized. The autosomal dominant hyper-IgE syndrome is associated with a cluster of facial, dental, skeletal, and connective tissue abnormalities which are not observable in the recessive type. In the majority of affected patients with autosomal dominant hyper-IgE syndrome a mutation in the signal transducer and the activator of the transcription 3 gene has been identified, leading to an impaired Th17 cells differentiation and to a downregulation of an antimicrobial response. A mutation in the dedicator of the cytokinesis 8 gene has been identified as the cause of many cases with autosomal recessive hyper-IgE syndrome and, in one patient, a mutation in tyrosine kinase 2 gene has been demonstrated. In this paper, the authors provide a review of the clinical manifestations in the hyper-IgE syndromes with particular emphasis on the diversity of their phenotypic expression and present current diagnostic guidelines for these diseases.
authors.affiliation: Department of Pediatric Pneumonology, Allergology and Clinical Immunology, Poznan University of Medical Sciences, 27/33 Szpitalna Street, Poznan, Poland. ola@malwa.com.pl
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Szczawinska-Poplonyk
authors.forename: Zdzislawa
authors.initials: Z
authors.lastname: Kycler
authors.forename: Barbara
authors.initials: B
authors.lastname: Pietrucha
authors.forename: Edyta
authors.initials: E
authors.lastname: Heropolitanska-Pliszka
authors.forename: Anna
authors.initials: A
authors.lastname: Breborowicz
authors.forename: Karolina
authors.initials: K
authors.lastname: Gerreth
mesh_terms: D002648:Child; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D007589:Job Syndrome / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D009894:Opportunistic Infections / Q000382:microbiology*; D010641:Phenotype
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