Job syndrome; Hyper IgE syndrome DefinitionHyperimmunoglobulin E syndrome is a rare, genetic disease. It causes problems with the skin, sinuses, lungs, bones, and teeth. CausesHyperimmunoglobulin 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. The 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. SymptomsSymptoms include:
Exams and TestsA physical exam may show:
Tests used to confirm the diagnosis include:
An eye exam may reveal signs of dry eye syndrome. A chest x-ray may reveal lung abscesses. Other tests that may be done:
A scoring system that combines the different problems of Hyper IgE syndrome may be used to help make the diagnosis. TreatmentThere is no known cure for this condition. The goal of treatment is to control the infections. Medicines include:
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 ComplicationsComplications may include:
When to Contact a Medical ProfessionalContact your health care provider if you have symptoms of Hyper IgE syndrome. PreventionThere 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. ReferencesAlbright 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. | |
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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. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. | |
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