Updated October 01, 2011.
This rare condition is also called Job syndrome. Health care experts have reported only 200 cases of HIE. People with HIE have very high levels of the IgE antibody. HIE causes recurring bacterial infections and other complications.
This means that to be born with this disease, a person needs to inherit the affected gene from only one parent. Scientists suspect that the affected gene (or genes) may prevent T cells from properly regulating the immune response to germs.
Tests also show poor immune response to immunizations.
NIAID scientists are evaluating HIE patients and their relatives to better understand the medical problems associated with this disease to identify and treat complications.
By disrupting different genes in the mouse, they hope to produce the syndrome in this animal so they will have a useful model for research. Finding the gene or genes involved in HIE will be critically important to developing better therapies for HIE, especially gene therapy.
For More Information:
reproduced from the National Institute of Allergy and Infectious Diseases Fact Sheet on Primary Immune Deficiency
This rare condition is also called Job syndrome. Health care experts have reported only 200 cases of HIE. People with HIE have very high levels of the IgE antibody. HIE causes recurring bacterial infections and other complications.
What causes HIE?
HIE is caused by an inherited abnormality in a gene. In about half of the cases, the flawed gene is linked to chromosome 4. In most known cases, it is autosomal dominant.This means that to be born with this disease, a person needs to inherit the affected gene from only one parent. Scientists suspect that the affected gene (or genes) may prevent T cells from properly regulating the immune response to germs.
What are the symptoms of HIE?
People with HIE have repeated bacterial infections of the skin, sinuses, and lungs. These infections are often caused by Staphylococcus aureus (staph). HIE patients may also have scoliosis (curvature of the spine), weak bones and recurrent bone fractures, strokes or other brain problems, severe itching and inflamed skin. They may fail to lose baby teeth.How is HIE diagnosed?
Doctors will suspect HIE in a person who has a red, itchy skin rash and recurring staph infections of the skin, sinuses, lungs, or joints. Patients with HIE often have distinctive facial characteristics- Asymmetry or uneven facial features
- Prominent forehead
- Deep-set eyes
- Broad nasal bridge
- Wide, fleshy nasal tip
- Protruding lower jaw
Tests also show poor immune response to immunizations.
How is HIE treated?
There is no specific treatment for HIE. Patients receive lifelong antibiotics to fight the recurring infections. People with HIE who lack other types of antibodies may find intravenous Ig injections (IVIG) helpful.NIAID scientists are evaluating HIE patients and their relatives to better understand the medical problems associated with this disease to identify and treat complications.
By disrupting different genes in the mouse, they hope to produce the syndrome in this animal so they will have a useful model for research. Finding the gene or genes involved in HIE will be critically important to developing better therapies for HIE, especially gene therapy.
For More Information:
reproduced from the National Institute of Allergy and Infectious Diseases Fact Sheet on Primary Immune Deficiency