HYPERIMMUNOGLOBULIN E SYNDROME, AUTOSOMAL DOMINANT

By Gary M. White, MD


Hyper IgE syndrome, aka Job’s syndrome, is a very rare primary immunodeficiency disease that often manifests itself as a recalcitrant "eczema" in a child.

Clinical

A papulopustular eruption of the face and scalp in the neonate is typical. It may generalize. The rash becomes eczematous within the first year of life. Secondary infection of the eczematous dermatitis is common. In addition, patients develop recurrent cold skin abscesses and sinopulmonary infections. Pulmonary infection results in abscess formation and pneumatocele development. Chronic mucocutaneous candidiasis occurs in 83% of patients.

Treatment

Topical steroids, emollients, bleach baths, culturing of the skin, and oral anti-Staphylococcus antibiotics are typically needed. Oral antifungal agents to treat candidiasis may be in order. A multidisciplinary approach to deal with all the skin, pulmonary, infectious issues is necessary.

References

A 6-year-old boy presents with recalcitrant "atopic dermatitis" from 2 months of age. The serum IgE level increased exponentially over time with a peak value of 57,400 IU/ml. Molecular genetic testing revealed a dominant negative mutation within the SH2 domain of the Signal Transducer and Activator of Transcription (STAT3) gene. The patient was subsequently diagnosed with Job’s syndrome. Am J Case Rep. 2016; 17: 104–110

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