Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)

Trial Information
Status: Recruiting
Location: See location...
Study Type: Observational

The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIIES; Job's syndrome) is caused by STAT3 mutations, and is a multi-system disorder with skeletal, vascular, and connective tissue manifestations. Understanding how STAT3 mutations cause these diverse clinical manifestations is critical to our complete understanding of bone metabolism, bronchiectasis, dental maturation, and atherosclerosis. Bi-allelic mutations in DOCK8 cause a combined immunodeficiency previously described as autosomal-recessive Hyper IgE syndrome. These individuals suffer from extensive viral infections as well as have a high incidence of malignancy and mortality. The pathogenesis of this disease and long-term natural history is being investigated. Therefore, we seek to enroll patients and families with a confirmed or suspected diagnosis of HIES syndrome for extensive phenotypic and genotypic study as well as disease management. Patients will be carefully examined by a multidisciplinary team and followed longitudinally. Through these studies we hope to better characterize the clinical presentation of STAT3-mutated HIES, DOCK8 deficiency and other causes of the hyper IgE phenotype, and to be able to identify further genetic etiologies, as well as understand the pathogenesis of HIES. We seek to enroll 300 patients and 300 relatives.

Am I eligible for this trial?
Participation Requirements
Minimum Age:
1 month
Healthy Volunteers:
Accepts Healthy Volunteers

• Patients may be included in this study who:

• Were referred to the NIH with a diagnosis or a suspicion of Hyper IgE syndrome.

• Are patients referred for other immune syndromes that demonstrate some of the characteristics of HIES.

• Are male or female, aged

• >=1 month for affected subjects

• >=2 years for unaffected subjects

• For unaffected subjects, are able to understand and have the willingness to sign a written informed consent document.

• Unaffected biological relatives of HIES patients are also eligible to enroll in a separate relative cohort.

Where is this trial taking place?
United States
National Institutes of Health Clinical Center
Who do I contact about this trial?
Christine J Lafeer, R.N.
(301) 761-6902
When is this trial taking place?
Start Date: August 10, 2000
How many participants will be in this trial?
Target number of participants: 600
What treatment is being studied in this trial?
Affected adults and children
Confirmed or suspected history of a Hyper IgE syndrome
Family members of subjects with confirmed or suspected history of a Hyper IgE syndrome
Who are the authors of this trial?
Alexandra F Freeman

This content was sourced from

Related and Unrelated Donor Hematopoietic Stem Cell Transplant for DOCK8 Deficiency
Start Date:October 5, 2010
Study Type:Procedure, Drug
Phase: Phase 2