Autosomal dominant hyper IgE syndrome

What causes autosomal dominant hyper IgE syndrome (AD-HIES)?

Most cases of AD-HIES are caused by mutations in the STAT3 gene . This gene provides instructions for making a protein that plays an important role in several body systems. The STAT3 protein is involved in controlling the activity of particular genes, including genes involved in the immune system, especially the T cells.

Changes in the STAT3 gene alter the structure and function of the STAT3 protein, impairing its ability to control the activity of other genes. The defective protein disrupts cellular functions such as immune system regulation. The resulting immune system abnormalities make people with AD-HIES highly susceptible to infections. The STAT3 protein is also involved in the formation of cells that build and break down bone tissue, which could explain why STAT3 gene mutations lead to the skeletal and dental abnormalities characteristic of AD-HIES. It remains unclear how STAT3 gene mutations lead to increased IgE levels.

When AD-HIES syndrome is not caused by STAT3 gene mutations, the genetic cause of is unknown.

Last updated on 05-01-20

How is autosomal dominant hyper IgE syndrome diagnosed?

The diagnosis of autosomal dominant hyper IgE syndrome (AD-HIES) is most often made based on a combination of clinical and laboratory findings. Diagnostic guidelines have been developed that include both immunologic /infectious manifestations and skeletal/connective tissue abnormalities. Molecular genetic testing of the STAT3 gene confirms the diagnosis.

GeneReviews provides more detailed information about the diagnosis of AD-HIES.

Last updated on 05-01-20

How is autosomal dominant hyper IgE syndrome inherited?

Autosomal dominant hyper IgE syndrome (AD-HIES) has an autosomal dominant pattern of inheritance. This means that one copy of an altered gene in each cell is sufficient to cause the disorder. In about half of all cases, an affected person inherits a STAT3 mutation from an affected parent. Other cases result from new mutations in this gene. These cases occur in people with no history of the disorder in their family.

A small percentage (<5%) of individuals who have the clinical symptoms associated with AD-HIES do not have an identifiable mutation in the STAT3 gene. This suggests that there are additional unidentified mutations.

Last updated on 05-01-20

Name: Immune Deficiency Foundation 110 West Road, Suite 300
Towson, MD, 21204, United States
Toll Free: 1-800-296-4433 Fax : +1-410-321-9165 Email: https://www.primaryimmune.org/services/ask-idf/ Url: https://www.primaryimmune.org/
Name: United States Immunodeficiency Network (USIDNET) 110 West Road, Suite 300
Towson, MD, 21204-4803, United States
Phone: 443-632-2558 Toll Free: 800-296-4433 (se habla español) Email: contact@usidnet.org Url: https://www.usidnet.org
Name: Immune Deficiencies Foundation Australia PO Box 969 Penrith NSW 2751
Australia
Phone: 800-100-198 Email: info@idfa.org.au Url: http://www.idfa.org.au/
Name: Primary Immune Deficiency UK PID UK PO Box 6970
Basingstoke, RG24 4XL, United Kingdom
Toll Free: 0800 987 8986 Email: hello@piduk.org Url: http://www.piduk.org/

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