* This is the Professional Version. *
Hyper-IgE Syndrome
(Hyperimmunoglobulinemia E Syndrome; Buckley Syndrome)
Patient Education
- Immunodeficiency Disorders
- Overview of Immunodeficiency Disorders
- Approach to the Patient With Suspected Immunodeficiency
- Ataxia-Telangiectasia
- Chédiak-Higashi Syndrome
- Chronic Granulomatous Disease (CGD)
- Chronic Mucocutaneous Candidiasis
- Common Variable Immunodeficiency (CVID)
- DiGeorge Syndrome
- Hyper-IgE Syndrome
- Hyper-IgM Syndrome
- Selective IgA Deficiency
- Leukocyte Adhesion Deficiency
- Selective Antibody Deficiency With Normal Immunoglobulins (SADNI)
- Severe Combined Immunodeficiency (SCID)
- Transient Hypogammaglobulinemia of Infancy
- Wiskott-Aldrich Syndrome
- X-linked Agammaglobulinemia
- X-linked Lymphoproliferative Syndrome
- ZAP-70 Deficiency
Hyper-IgE syndrome is a hereditary combined B- and T-cell immunodeficiency characterized by recurrent staphylococcal abscesses of the skin, sinopulmonary infections, and severe pruritic eosinophilic dermatitis.
(See also Overview of Immunodeficiency Disorders and Approach to the Patient With an Immunodeficiency Disorder.)
Hyper-IgE syndrome is a primary immunodeficiency disorder that involves combined humoral and cellular immunity deficiencies. Inheritance can be
Hyper-IgE syndrome starts during infancy.
Symptoms and Signs
Hyper-IgE syndrome typically causes recurrent staphylococcal abscesses of the skin, lungs, joints, and viscera; sinopulmonary infections; pulmonary pneumatoceles; and a severe pruritic eosinophilic dermatitis.
Patients have coarse facial features, delayed shedding of baby teeth, osteopenia, and recurrent fractures. All have tissue and blood eosinophilia and very high IgE levels (> 2000 IU/mL).
Diagnosis
Treatment
Treatment of hyper-IgE syndrome consists of lifelong prophylactic antistaphylococcal antibiotics (usually trimethoprim/sulfamethoxazole).
Dermatitis is treated with skin hydration, emollient creams, antihistamines. and, if infections are suspected, antibiotics. Pulmonary complications are treated early and aggressively with antibiotics.
Interferon gamma has been used successfully for life-threatening infections.
Drugs Mentioned In This Article
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Drug NameSelect Trade
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trimethoprimNo US brand name
- Immunodeficiency Disorders
- Overview of Immunodeficiency Disorders
- Approach to the Patient With Suspected Immunodeficiency
- Ataxia-Telangiectasia
- Chédiak-Higashi Syndrome
- Chronic Granulomatous Disease (CGD)
- Chronic Mucocutaneous Candidiasis
- Common Variable Immunodeficiency (CVID)
- DiGeorge Syndrome
- Hyper-IgE Syndrome
- Hyper-IgM Syndrome
- Selective IgA Deficiency
- Leukocyte Adhesion Deficiency
- Selective Antibody Deficiency With Normal Immunoglobulins (SADNI)
- Severe Combined Immunodeficiency (SCID)
- Transient Hypogammaglobulinemia of Infancy
- Wiskott-Aldrich Syndrome
- X-linked Agammaglobulinemia
- X-linked Lymphoproliferative Syndrome
- ZAP-70 Deficiency
* This is the Professional Version. *
Also of Interest
Test your knowledge
Immunodeficiency typically manifests as recurrent infections. However, there are more likely causes of recurrent infections, such as inadequate duration of antibiotic treatment, resistant organisms, and other disorders that predispose to infection. Immunodeficiency should be suspected EXCEPT when recurrent infections are which of the following?
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Kimia
Meghan