Hyperimmunoglobulinemia E syndrome is a rare disorder characterized by markedly elevated serum IgE levels, chronic eczematoid dermatitis, and recurrent infections.

The syndrome is poorly understood; the following abnormalities have been noted in subgroups of patients:

• Phagocytic: impaired chemotaxis
• T cell: impaired proliferative response to antigens
• B cell: variable heterogeneity of ability to form antibodies to antigens

• Atopic dermatitis
• Wiskott-Aldrich syndrome
• Chronic granulomatous disease

• Recurrent infection: otitis media, pneumonia, sinusitis, subcutaneous abscesses, pneumatoceles
• Organisms that cause infection: Staphylococcus aureus, Candida, Haemophilus influenzae, Streptococcus pneumoniae, group A streptococcus
• Severe eczematoid dermatitis as early as 1 week of age

• Coarse facial features, broad nasal bridge, prominent nose
• Growth retardation can occur with recurrent illnesses.
• Osteoporosis complicated by recurrent fractures

• Eosinophilia: peripheral eosinophils, >500 cells/mL
• Quantitative immunoglobulins: IgG, IgA, IgM usually normal, but IgE elevated, usually >5,000 IU/mL
• IgE antibodies against S. aureus
• Functional antibodies to diphtheria, tetanus, HIB, and pneumococcus results are variable, but there is a subgroup of patients that is unable to mount an appropriate antibody response to these antigens.
• Pulmonary function tests to evaluate extent of lung disease from infections such as pneumatoceles

• Supportive, based on clinical and laboratory findings
• Life-long use of antistaphylococcal therapy (i.e., dicloxacillin or augmentin at therapeutic doses)
• Surgical intervention for management of pneumatoceles for drainage or secondary to compression of nearby parenchyma
• IVIG as replacement therapy for abnormal functional antibodies is usually given at 400 g/kg on a monthly basis.

Long-term outcome is unknown; it depends on a timely diagnosis that allows for close monitoring and aggressive treatment of infections. Sequelae from recurrent infections such as pneumonias and pneumatoceles can result in a debilitating course. An increased chance of malignancy has been reported in some cases.

Q: Is this disease also referred to as Job syndrome?
A: Yes, because Job suffered from difficulties with boils and other skin manifestations.

Douglas SD, Campbell DE. The hyperimmunoglobulinemia E-recurrent infection syndrome. Clin Immunol Newsletter 1984; 5:86–87.

Lavoie A, Rottem M, Grodofsky MD, Douglas SD, et al. Anti-staphylococcus aureus IgE antibodies for diagnosis of hyperimmunoglobulinemia E-recurrent infection syndrome in infancy. Am J Dis Child 1989; 143:38–104.

Leung DYM, Geha RS. Clinical and immunologic aspects of the hyperimmunoglobulin E syndrome. Hematol Oncol Clin North Am 1988; 2(1):81–97.

Sheerin KA, Buckley RH. Antibody response to protein, polysaccharide, and Ox174 antigens of the hyperimmunoglobulinemia E syndrome. J Allergy Clin Immunol 1991; 87(4):803–811.