Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Autosomal Dominant Hyper IgE Syndrome

  • Jenna R. E. Bergerson
  • Alexandra F. FreemanEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_168-1

Synonyms

Introduction

Autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES)(OMIM#147060), also known as Job’s syndrome, is a primary immunodeficiency characterized by elevated immunoglobulin E (IgE), eczema, infections, and multiple connective tissue, skeletal, and vascular abnormalities. First described in 1966 by Davis et al., it was initially characterized by the triad of eosinophilia, eczema, and recurrent skin and pulmonary infections (Davis et al. 1966). Shortly thereafter, in 1972, Buckley et al. recognized that an elevated IgE levels was a part of this clinical spectrum, giving rise to the name hyperimmunoglobulin E syndrome. Dominant-negative heterozygous mutations in signal transducer and activator of transcription 3 (STAT3) were identified in 2007 as the link between recurrent infections and connective tissue abnormalities (Holland et al. 2007; Minegishi et al. 2007). Many cases are sporadic, but when familial, all...

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References

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Jenna R. E. Bergerson
    • 1
  • Alexandra F. Freeman
    • 1
    Email author
  1. 1.Laboratory of Clinical Immunology and MicrobiologyNational Institutes of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH)BethesdaUSA

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA