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Hyper-IgE Syndrome

(Hyperimmunoglobulinemia E Syndrome; Buckley Syndrome)

By

James Fernandez

, MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve University

Last full review/revision Apr 2021| Content last modified Apr 2021

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. Diagnosis is confirmed by measurement of serum IgE levels. Treatment consists of supportive measures, including lifelong prophylactic antistaphylococcal antibiotics.

(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

  • 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 of Hyper-IgE Syndrome

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]).

Diagnosis of Hyper-IgE Syndrome

  • 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 of Hyper-IgE Syndrome

  • 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 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.

Drugs Mentioned In This Article

Drug Name Select Trade
trimethoprim No US brand name

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