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</div><div><span>Hyperimmunoglobulin E syndrome</span></div></div>
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<article><div id="d-article"><div class="page-info"><div class="page-title"><a name="start" id="start">
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</a><h1 class="with-also" itemprop="name">Hyperimmunoglobulin E syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Hyperimmunoglobulin E syndrome is a rare, genetic disease. It causes problems with the skin, sinuses, lungs, bones, and teeth.</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>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 <a test="test" href="./003234.htm">pustules</a>. People with this condition have long-term, severe skin infections.</p><p>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.</p><p>Recent research suggests that the disease is often caused by a genetic change that takes place in the <em>STAT3</em><a test="test" href="./002371.htm">gene</a> on <a test="test" href="./002327.htm">chromosome</a> 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 <a test="test" href="./002223.htm">antibody</a> called IgE.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Symptoms include:</p><ul><li>Bone and tooth defects, including fractures and losing the baby teeth late</li><li>Eczema</li><li>Skin <a test="test" href="./001353.htm">abscesses</a> and infection</li><li>Repeated <a test="test" href="./000647.htm">sinus infections</a></li><li>Repeated lung infections
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</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>A physical exam may show:</p><ul><li>Curving of the spine (<a test="test" href="./001241.htm">kyphoscoliosis</a>)</li><li><a test="test" href="./000437.htm">Osteomyelitis</a></li><li>Repeat sinus infections</li></ul><p>Tests used to confirm the diagnosis include:</p><ul><li><a test="test" href="./003649.htm">Absolute eosinophil count</a></li><li><a test="test" href="./003642.htm">CBC</a> with <a test="test" href="./003657.htm">blood differential</a></li><li><a test="test" href="./003544.htm">Serum globulin electrophoresis</a> to look for high blood IgE level</li><li>Genetic testing of <em>STAT3</em> gene</li></ul><p>An eye exam may reveal signs of <a test="test" href="./000426.htm">dry eye syndrome</a>.</p><p>A chest x-ray may reveal lung abscesses.</p><p>Other tests that may be done:</p><ul><li><a test="test" href="./003330.htm">CT scan</a> of the chest
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</li><li>Cultures of the infected site</li><li>Special blood tests to check parts of the <a test="test" href="./000821.htm">immune system</a></li><li><a test="test" href="./003808.htm">X-ray of the bones</a></li><li>
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CT scan of the sinuses
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</li></ul><p>A scoring system that combines the different problems of Hyper IgE syndrome may be used to help make the diagnosis.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>There is no known cure for this condition. The goal of treatment is to control the infections. Medicines include:</p><ul><li><div>Antibiotics</div></li><li><div>Antifungal and antiviral medicines (when appropriate)</div></li></ul><p>Surgery is sometimes needed to drain abscesses.</p><p>Gamma globulin given through a vein (IV) may help build up the immune system if you have severe infections.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>Hyper IgE syndrome is a lifelong chronic condition. Each new infection requires treatment.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>Complications may include:</p><ul><li>Repeated infections</li><li><a test="test" href="./000666.htm">Sepsis</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Contact your health care provider if you have symptoms of Hyper IgE syndrome.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>There is no proven way to prevent Hyper IgE syndrome. Good general hygiene is helpful in preventing skin infections.</p><p>Some providers may recommend preventive antibiotics for people who develop many infections, especially with <em>Staphylococcus aureus</em>. This treatment does not change the condition, but it can lessen its complications.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Job syndrome; Hyper IgE syndrome</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Albright D, Larkin A, Chong HJ. Allergy and immunology. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. <em>Zitelli and Davis' Atlas of Pediatric Physical Diagnosis.</em> 8th ed. Philadelphia, PA: Elsevier; 2023:chap 4.</p><p>Holland SM, Gallin JI. Evaluation of the patient with suspected immunodeficiency. In: Bennett JE, Dolin R, Blaser MJ, eds. <em>Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases. </em>9th ed. Philadelphia, PA: Elsevier; 2020:chap 12.</p><p>Verbsky JW, Routes JM. Pulmonary complications of primary immunodeficiencies. In: Broaddus VC, Ernst JD, King TE, et al, eds. <em>Murray & Nadel's Textbook of Respiratory Medicine</em>. 7th ed. Philadelphia, PA: Elsevier; 2022:chap 124.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 9/18/2023</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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