Hyper-IgE (Buckley) syndrome is combined B- and T-cell immunodeficiency characterized by recurrent staphylococcal abscesses of the skin, lungs, joints, and viscera.

Inheritance is autosomal dominant with incomplete penetrance; it is caused by mutations in the STAT3 (signal transducer and activator of transcription 3) gene.

Hyper-IgE syndrome starts during infancy. It typically causes recurrent staphylococcal abscesses of the skin, lungs, joints, and viscera with pulmonary pneumatoceles and a 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 (> 1000 IU/mL [> 2400 μg/L]).

Diagnosis is suspected based on symptoms and confirmed by measurement of serum IgE levels. Genetic testing can identify the abnormal gene.

Treatment consists of lifelong continuous antistaphylococcal antibiotics (eg, dicloxacillin, cephalexin).

Last full review/revision September 2008 by Rebecca H. Buckley, MD