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lüll The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency Szczawinska-Poplonyk A; Kycler Z; Pietrucha B; Heropolitanska-Pliszka E; Breborowicz A; Gerreth KOrphanet J Rare Dis 2011[Nov]; 6 (ä): 76The 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.|Child[MESH]|Child, Preschool[MESH]|Genetic Predisposition to Disease[MESH]|Humans[MESH]|Immunologic Deficiency Syndromes/*complications[MESH]|Job Syndrome/diagnosis/genetics/immunology/*pathology[MESH]|Opportunistic Infections/*microbiology[MESH]|Phenotype[MESH] |