Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterized by eczema and recurrent skin rash, elevated serum IgE, recurrent staphylococcal skin abscesses, eosinophilia, and recurrent lung infections. There are two primary forms of HIES categorized by whether they have autosomal dominant (AD-HIES) or autosomal recessive (AR-HIES) inheritance patterns.
AD-HIES is the more common form and is associated with pathogenic variants in the STAT3 gene. Variants in this gene are also linked to onychomycosis and mucocutaneous candidiasis. AR-HIES is associated with DOCK8 deficiency and is often distinguished by recurring viral infections. This type also has an increased risk for neurological disorders.
In addition to AD-HIES and AR-HIES, this panel includes genes associated with other conditions that may result in elevated serum IgE levels, such as Netherton syndrome, PGM3 deficiency, and TYK2 deficiency.
Who is this test for?
This panel may be appropriate for anyone with a personal or family history of HIES. Individuals with elevated serum IgE, recurrent skin and lung infections, unexplained bone deformities, and eczema may benefit from testing.
What are the potential benefits for my patient?
Genetic testing can help establish a HIES diagnosis and determine the specific etiology. Analysis of the genes associated with HIES helps with prognosis and treatment development.
Genetic testing for Hyper-IgE syndrome can:
- Establish or confirm the appropriate diagnosis
- Identify risks for additional related symptoms
- Assist in modifying lifestyle changes
- Result in more personalized treatment and symptom management
- Inform family members about their own risk factors
- Provide options for family planning