Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
NCT00006150
This study is recruiting at 1 US site in 1 state, according to its ClinicalTrials.gov record last updated .
Summary
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.
Shortened from the sponsor's brief summary. View official record on ClinicalTrials.gov
Conditions studied
- Infections
- Pneumonia
- Immune System Diseases
- STAT3 Transcription Factor
- Job Syndrome
Eligibility basics and study details
- Study type
- Observational
- Phase
- Not applicable
- Ages
- 1 month to 120 years
- Sex
- All
- Healthy volunteers
- Accepted
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
- Last updated on ClinicalTrials.gov
- September 28, 2026
These are the basic criteria only. The full inclusion and exclusion criteria are on the official record, and the study team decides who can take part.
US recruiting sites
Maryland · 1
- National Institutes of Health Clinical Center · Bethesda, MD
Source: ClinicalTrials.gov, data processed . Recruiting US sites filtered by distance and site status; summaries shortened.