Hyper Ige Syndrome (Job's Syndrome)

Beatriz Morillo-Gutiérrez
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Patient Education
What is Hyper IgE syndrome?
Hyper IgE syndrome (HIES) is also known as Job's syndrome. It comprises a group of primary immunodeficiency where recurrent skin and lung infections, eczema and sometimes allergies are seen.

What are the symptoms of Hyper IgE syndrome?
Symptoms of Job's syndrome include eczema, recurrent abscesses, pneumonia and recurrent candida infections. Eczema usually occurs in the creases behind the ears, the back, buttocks and scalp. Boils and abscesses are commonly caused by bacteria called as Staphylococcal aureus. Patients can also have recurrent sinusitis, otitis media, and ear infections. Pneumonia in patients with Hyper IgE syndrome leads to cavities in lung (pneumatoceles) or scarring of the lower air passages (bronchiectasis).

Adolescents have prominent forehead and chin, broad nose and thickened facial skin with lax joints. Fractures are common due to weak bones. Scoliosis (curved spine) is common. Primary teeth are retained for a longer time which in turn prevents eruption of the permanent teeth.
Other features depending on the underlying gene defect can be increased susceptibility to cutaneous viral infections and severe manifestations of allergy.

What is the cause of Hyper IgE syndrome?
Hyper IgE syndrome is rare with less than 850 cases reported worldwide. It affects both boys and girls equally. So far, there have been 4 mutations linked to this syndrome, but in some cases the genetic mutation has not been identified.

Does Hyper IgE syndrome run in families?
There is a type of Hyper IgE syndrome, which runs in families due to mutations in gene on chromosome 4. This kind of Hyper IgE syndrome is acquired by autosomal dominant inheritance whereby if one of the parents is affected, then chances of passing the abnormal gene to the child is about 50%.
For the other 3 mutations, they run in an autosomal recessive manner, this is, the chances to have the condition is 25%, increasing if the parents are family between them.

How is the diagnosis of Hyper IgE syndrome made?
Measuring IgE levels is one of the laboratory test used for diagnosis of Hyper IgE syndrome. Usually, patients with Hyper IgE syndrome have levels above 1000-2000 IU/ml. Presence of other clinical features such as boils, pneumonia, teeth abnormalities help to reach the diagnosis.

Elevated IgE levels may be seen in other conditions such as severe allergies and thus results must be interpreted with clinical features, and ultimately, a genetic test should be done.

What is the treatment of Hyper IgE syndrome?
Depending on the underlying condition causing the HIES, the treatment could differ. For some of these patients, skin care and prompt treatment of infections are essential. Eczema can be treated with moisturising creams. Fungal infections can be treated with antifungals and bacterial with antibiotics, including prophylaxis or long term treatment if needed. For some conditions, haematopoietic stem cells transplant should be done in a special unit.

What are complications of Hyper IgE syndrome?
Patients with Jobs syndrome are at increased risk of certain types of cancers such as lymphoma or autoimmune diseases such as systemic lupus erythematosus (SLE). They can have as well chronic problems in the lungs secondary to the scarring of the pneumonias, such as bronchiectasis.

References
Hyper Ige Syndrome (Job's Syndrome) Hyper Ige Syndrome (Job's Syndrome) 09/05/2018
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