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Hyper IgE Syndrome / HIES (Pediatric)

What is Hyper IgE Syndrome?

This condition is a rare immunodeficiency characterized by eczema, recurrent staphylococcal skin abscesses, recurrent lung infections, pneumatocele formation, skeletal and connective tissue abnormalities, high counts of eosinophils in the blood, and high levels of immunoglobulin E. Distinctive facial appearances may include prominent forehead and chin, deep-set eyes, broad noses, and high arched palate. Baby teeth may be retained even after the permanent teeth have started to grow in.

What causes Hyper IgE Syndrome?

There are at least two genetic forms of Hyper IgE syndrome. Autosomal dominant form is caused by mutations in STAT3 gene and autosomal recessive form is caused by mutations in DOCK8 gene.

How is Hyper IgE Syndrome diagnosed?

The diagnosis is made based on clinical and laboratory findings. National Institute of Health HIES scoring also may help with the diagnosis of autosomal dominant Hyper IgE Syndrome. Many times genetic testing is required to confirm the diagnosis.

What is the treatment for Hyper IgE Syndrome?

Treatment may include prophylactic antibiotics to prevent respiratory and skin infections, extraction of the primary teeth for healthy dentition, prompt and aggressive treatment of infections, and appropriate skin care. Immunoglobulin replacement therapy, immune modulators, and bone marrow transplantation may be recommended in some cases.