Hyperimmunoglobulin E syndrome
Job syndrome; Hyper IgE syndromeHyperimmunoglobulin E syndrome is a rare, genetic disease. It causes problems with the skin, sinuses, lungs, bones, and teeth.
Causes
Hyperimmunoglobulin E syndrome is also called Job syndrome. It is named after the biblical character Job, whose faithfulness was tested by an affliction with draining skin sores and pustules. People with this condition have long-term, severe skin infections.
Pustules
Pustules are small, inflamed, pus-filled, blister-like sores (lesions) on the skin surface.
Read Article Now Book Mark ArticleThe symptoms are most often present in childhood, but because the disease is so rare, it often takes years before a correct diagnosis is made.
Recent research suggests that the disease is often caused by a genetic change that takes place in the STAT3gene on chromosome 17. How this gene abnormality causes the symptoms of the disease is not well understood. However, people with the disease have a higher-than-normal level of a type of antibody called IgE.
Gene
A gene is a short piece of DNA. Genes tell the body how to build specific proteins. There are about 20,000 genes in each cell of the human body. T...
Read Article Now Book Mark ArticleChromosome
Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA is the material that holds genes. It is the bu...
Read Article Now Book Mark ArticleAntibody
An antibody is a protein produced by the body's immune system when it detects harmful substances, called antigens. Examples of antigens include micr...
Read Article Now Book Mark ArticleSymptoms
Symptoms include:
- Bone and tooth defects, including fractures and losing the baby teeth late
- Eczema
- Skin abscesses and infection
Abscesses
An abscess is a collection of pus in any part of the body. In most cases, the area around an abscess is swollen and inflamed.
Read Article Now Book Mark Article - Repeated sinus infections
Sinus infections
Sinusitis is present when the tissue lining the sinuses become swollen or inflamed. It occurs as the result of an inflammatory reaction or an infect...
Read Article Now Book Mark Article - Repeated lung infections
Exams and Tests
A physical exam may show:
- Curving of the spine (kyphoscoliosis)
Kyphoscoliosis
Scoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...
Read Article Now Book Mark Article - Osteomyelitis
Osteomyelitis
Osteomyelitis is a bone infection. It is caused by bacteria or other germs.
Read Article Now Book Mark Article - Repeat sinus infections
Tests used to confirm the diagnosis include:
- Absolute eosinophil count
Absolute eosinophil count
An absolute eosinophil count is a blood test that measures the number of one type of white blood cells called eosinophils. Eosinophils become active...
Read Article Now Book Mark Article - CBC with blood differential
CBC
A complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...
Read Article Now Book Mark ArticleBlood differential
The blood differential test measures the percentage of each type of white blood cell (WBC) that you have in your blood. It also reveals if there are...
Read Article Now Book Mark Article - Serum globulin electrophoresis to look for high blood IgE level
Serum globulin electrophoresis
The quantitative immunoglobulins test measures the levels of proteins called gamma globulins in the fluid part of a blood sample. This fluid is call...
Read Article Now Book Mark Article - Genetic testing of STAT3 gene
An eye exam may reveal signs of dry eye syndrome.
Dry eye syndrome
You need tears to moisten the eyes and to wash away particles that have gotten into your eyes. A healthy tear film on the eye is necessary for good ...
Read Article Now Book Mark ArticleA chest x-ray may reveal lung abscesses.
Other tests that may be done:
- CT scan of the chest
CT scan
A computed tomography (CT) scan is an imaging method that uses x-rays to create pictures of cross-sections of the body. Related tests include:Abdomin...
Read Article Now Book Mark Article - Cultures of the infected site
- Special blood tests to check parts of the immune system
Immune system
The immune response is how your body recognizes and defends itself against bacteria, viruses, and substances that appear foreign and harmful....
Read Article Now Book Mark Article - X-ray of the bones
X-ray of the bones
A bone x-ray is an imaging test to look at the bones.
Read Article Now Book Mark Article - CT scan of the sinuses
A scoring system that combines the different problems of Hyper IgE syndrome may be used to help make the diagnosis.
Treatment
There is no known cure for this condition. The goal of treatment is to control the infections. Medicines include:
- Antibiotics
- Antifungal and antiviral medicines (when appropriate)
Surgery is sometimes needed to drain abscesses.
Gamma globulin given through a vein (IV) may help build up the immune system if you have severe infections.
Outlook (Prognosis)
Hyper IgE syndrome is a lifelong chronic condition. Each new infection requires treatment.
Possible Complications
Complications may include:
- Repeated infections
- Sepsis
Sepsis
Sepsis is an illness in which the body has a severe, inflammatory response to bacteria or other germs.
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When to Contact a Medical Professional
Contact your health care provider if you have symptoms of Hyper IgE syndrome.
Prevention
There is no proven way to prevent Hyper IgE syndrome. Good general hygiene is helpful in preventing skin infections.
Some providers may recommend preventive antibiotics for people who develop many infections, especially with Staphylococcus aureus. This treatment does not change the condition, but it can lessen its complications.
References
Albright D, Larkin A, Chong HJ. Allergy and immunology. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 4.
Holland SM, Gallin JI. Evaluation of the patient with suspected immunodeficiency. In: Bennett JE, Dolin R, Blaser MJ, eds. Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases. 9th ed. Philadelphia, PA: Elsevier; 2020:chap 12.
Verbsky JW, Routes JM. Pulmonary complications of primary immunodeficiencies. In: Broaddus VC, Ernst JD, King TE, et al, eds. Murray & Nadel's Textbook of Respiratory Medicine. 7th ed. Philadelphia, PA: Elsevier; 2022:chap 124.
Review Date: 9/18/2023
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.