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: Aleksandra Szczawinska-Poplonyk, Zdzislawa Kycler, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Anna Breborowicz, Karolina Gerreth
• Journal: Orphanet journal of rare diseases (Orphanet J Rare Dis) Vol. 6 Pg. 76 (Nov 15 2011) ISSN: 1750-1172 [Electronic] England
• PMID: 22085750 (Publication Type: Journal Article, Review)

Topics

• Child
• Child, Preschool
• Genetic Predisposition to Disease
• Humans
• Immunologic Deficiency Syndromes (complications)
• Job Syndrome (diagnosis, genetics, immunology, pathology)
• Opportunistic Infections (microbiology)
• Phenotype