Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media

  • Jing Wu
  • Li HongEmail author
  • Tong-Xin ChenEmail author
Otitis (DP Skoner, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Otitis


Purpose of Review

The hyper IgE syndromes (HIES) comprise a group of rare primary immunodeficiency disorders (PIDDs), which are characterized by extremely high serum IgE levels, eczema, recurrent skin and pulmonary infections. Both autosomal dominant (AD) HIES due to STAT3 mutations and autosomal recessive (AR) HIES due to PGM3, SPINK5, DOCK8 and TKY2 mutations have been reported. Here, we aim to summarize and compare the major clinical manifestations of different subtypes of HIES. We will also discuss otitis media, which usually do not get enough attention in HIES. Update and familiarity with these clinical features will help to make a better diagnose, assessment and treatment of HIES.

Recent Findings

Although hyper serum IgE levels have been identified in PGM3 deficiency and Comel–Netherton syndrome, PGM3 and SPINK5 genes were not included in the list of genetic etiologies of AR-HIES by the Expert Committee of the International Union of Immunological Societies until 2015. The identification of these HIES-causing genes greatly promoted the pathogenic mechanism studies of HIES. Also, in recent years, more clinical manifestations, which were often not of concern in HIES patients, have been shown to be highly related to HIES. For example, a significantly high frequency of vascular and gastrointestinal abnormities has been reported in STAT3-deficient AD-HIES patients. These new findings might help to provide new clues to the functional study of these HIES-related genes.


This review summarizes and compares the major clinical manifestations of different subtypes of HIES, and we suggest that the incidence and severity of otitis media should not be underestimated in HIES patients.


Hyper IgE syndrome Clinical manifestation Cutaneous manifestations Infections Otitis media Different genetic etiologies 


Grant numbers

This research was supported by grants from National Natural Science Foundation of China (81571605 and 81701626).

Compliance with Ethical Standards

Conflict of Interest

The authors declare no conflicts of interest relevant to this manuscript.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


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Copyright information

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

Authors and Affiliations

  1. 1.Department of Allergy and Immunology, Shanghai Children’s Medical CenterShanghai Jiao Tong University School of MedicineShanghaiChina
  2. 2.Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Children’s Medical CenterShanghai Jiao Tong University School of MedicineShanghaiChina
  3. 3.Allergy and Immunology Multidisciplinary Specialty Clinic, Shanghai Children’s Medical CenterShanghai Jiao Tong University School of MedicineShanghaiChina

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