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Hyper-IgE Syndrome

by James Fernandez, MD, PhD

Hyper-IgE (Buckley) 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.

Inheritance can be autosomal dominant or recessive. The autosomal dominant form is caused by mutations in the STAT3 (signal transducer and activator of transcription 3) gene; the autosomal recessive form 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. It 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 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 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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