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Genetic and Rare Diseases Information Center (GARD)

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Hyper IgE syndrome

Other Names for this Disease
  • HIES
  • Hyper-IgE recurrent infection syndrome
  • Hyperimmunoglobulin E syndrome
  • Job syndrome
  • Job's syndrome
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Your Question

I was diagnosed with Job syndrome when I was little and I'm now twenty years old and searching for answers about my condition. Where can I find out what's going to come in my future as far as my health and physically?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is the long-term outlook for people with hyper IgE syndrome (HIES)?

The long-term outlook for individuals with HIES depends on the type of the condition present (the autosomal dominant or autosomal recessive form) and how severely affected the individual is.

Most individuals with the autosomal dominant form (AD-HIES) survive into mid-adulthood, but a shortened life span is common.[1][2] The oldest reported affected individual was approximately 60 years of age.[2] Deaths in the second and third decades of life due to severe pulmonary disease and infection of pneumatoceles (thin-walled, air-filled cysts) have been reported.[2] Other reported complications have included myocardial infarction (heart attack) related to coronary artery aneurysm and subarachnoid hemorrhage related to intracranial (brain) aneurysm. Lymphomas occur more commonly in affected individuals. Other malignancies (cancers) have also been reported.[1]

Prognosis for individuals with the autosomal recessive form (AR-HIES) is poor with most affected individuals not reaching adulthood if untreated. AR-HIES has high mortality due to sepsis, central nervous system (CNS) infections, and early onset of malignancies.[3] Individuals with mutations in the DOCK8 gene are known to have frequent complications with cutaneous viral infections caused by varicella-zoster, herpes simplex viruses, HPV, and molluscum contagiosum virus at a younger age. Individuals with AR-HIES are also known to develop severe chronic refractory molluscum contagiosum infections (resistant to treatment).[2]

Last updated: 10/10/2012

What is hyper IgE syndrome?

Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES).[4] Individuals with AD-HIES may also have varying degrees of connective tissue, skeletal, and dental abnormalities as well as a distinctive facial appearance. This form is inherited in an autosomal dominant manner and is caused by mutations in the STAT3 gene in about 70% of cases.[5] Unique characteristics of AR-HIES include extreme hypereosinophilia; susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; central nervous system involvement; T-cell defects; and a high death rate. AR-HIES is inherited in an autosomal recessive manner and is often caused by mutations in the DOCK8 gene.[3]
Last updated: 10/10/2012