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Hyper-IgE Syndrome

(Hyperimmunoglobulinemia E Syndrome; Buckley Syndrome)

By James Fernandez, MD, PhD, The R. J. Fasenmyer Center for Clinical Immunology

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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.

Hyper-IgE syndrome is a primary immunodeficiency disorder that involves combined humoral and cellular immunity deficiencies. Inheritance can be

  • Autosomal dominant: Caused by mutations in the STAT3 (signal transducer and activator of transcription 3) gene

  • Autosomal recessive: Appears to be caused by homozygous null mutations in TYK2 (tyrosine kinase 2) or DOCK8 (dedicator of cytokinesis 8) genes

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

  • Serum IgE levels

Diagnosis of hyper-IgE syndrome is suspected based on symptoms and confirmed by measurement of serum IgE levels.

Genetic testing can identify the gene mutations and is done mainly to confirm the diagnosis or to help predict inheritance patterns.

Treatment

  • Prophylactic antistaphylococcal antibiotics

  • Sometimes interferon gamma for severe infection

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.

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* This is the Professional Version. *