(Hyperimmunoglobulinemia E Syndrome; Buckley Syndrome)
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.
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 [4800 mcg/L]).
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 infections are treated early and aggressively with antibiotics.
Significant osteopenia should be screened for and managed under current guidelines for patients without a primary immunodeficiency disorder.
Interferon gamma has been used successfully for life-threatening infections.