Hyper IgE Syndrome (Job’s Syndrome)

Hyper IgE syndrome is an immune deficiency caused by a genetic mutation in either STAT3 (autosomal dominant, also known as Job’s syndrome) or DOCK8 (autosomal recessive). 

There may be other mutations in other genes that are currently not known. 

Patients with either form of hyper IgE syndrome often have trouble fighting harmful bacteria and fungi and may develop serious infections, especially in the skin and lung.

The patient may develop these symptoms:

  • Frequent skin infections
  • Recurrent abscesses in the skin or lungs
  • Dry, itchy skin (eczema)
  • Frequent pneumonia  
  • Yeast infections
  • Elevated IgE

Here are complications broken down by genetic mutation. As a child gets older, watch for:

STAT 3 Mutations

  • Delay in losing primary teeth
  • Large cysts in the lungs, called pneumatoceles
  • Poor bone formation
  • Increased broken bones (fractures)
  • Abnormal curvature of the spine (scoliosis)
  • Changes in blood vessels (aneurysms)
  • Lymphoma 

DOCK8 Mutations 

  • Asthma and other allergic disorders 
  • Viral skin infections (warts, molluscum, herpes) 
  • Skin cancer 
  • Lymphoma  

How Do You Detect These Complications? 

  • Chest X-rays or chest CTs are done regularly to look for cysts in the lungs
  • Clinical surveillance

For most patients, treatment focuses on stopping the symptoms. Some common treatments are:

  • Antibiotics to treat infections
  • Cream medication for skin rash
  • Pulmonary (lung) monitoring with spirometry and imaging
  • Some patients may need to take medication every day to prevent infection
  • Some patients may need to get an IV medicine called IVIG. IVIG contains antibodies to fight future infections.  

For some patients with DOCK8 deficiency, bone marrow transplantation is recommended.

Last Updated 07/2015