Understanding Hyper IgE Recurrent Infection Syndrome
Official title: Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
Run by National Institutes of Health Clinical Center (CC) · NCT00006150 · Data updated 2026-11-12
This study is looking for patients and families with Hyper IgE Syndrome to see how their symptoms are linked to genetic changes and to learn more about managing the condition over time.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Month to 120 Years |
| Sex | All |
| Enrollment | 600 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Status | Recruiting |
| Started | August 10, 2000 |
| Registry record updated | November 9, 2026 |
| Trial ID | NCT00006150 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals with a confirmed or suspected diagnosis of Hyper IgE syndrome, as well as their unaffected biological relatives.
✕Probably not a fit
Patients without a diagnosis or suspicion of Hyper IgE syndrome or those with contraindications to participation may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study focuses on the Hyper IgE Syndromes (HIES), which are primary immunodeficiencies characterized by eczema and recurrent infections. It aims to enroll patients and families with confirmed or suspected HIES for extensive phenotypic and genotypic analysis. The research will investigate the clinical manifestations associated with mutations in the STAT3 gene and other genetic factors contributing to HIES. Patients will be examined by a multidisciplinary team and followed over time to better understand the disease's natural history and management.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of Hyper IgE syndrome, potentially enhancing patient outcomes.
How similar studies have gone: Other studies have explored aspects of immunodeficiencies, but this specific focus on HIES and its genetic underpinnings is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: 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. * \>=1 month for affected subjects * Aged \>=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. EXCLUSION CRITERIA: Coronary CTA will not be performed on any patient younger than 30 years or with contraindication to IV contrast media. This includes patients with 1) creatinine value of \>1.3 mg/dL, 2) history of multiple myeloma, 3) Use of metformin-containing products less than 24 hours prior to contrast media, and 4) history of significant allergic reaction to CT contrast agents despite the use of premedication. Subjects with a medical, psychiatric, or social condition which, in the opinion of the investigator, would place undue burden on the subject, NIH resources, or increase risk of participation, may be excluded.
Where it's running
-
National Institutes of Health Clinical Center
Bethesda, Maryland, United States Recruiting
Study contacts
- Principal investigator: Alexandra F Freeman, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Jean M Ulrick
- Email: julrick@niaid.nih.gov
- Phone: (301) 221-0855
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Respiratory Physiotherapy in Critically Ill Pneumonia Patients
This study tests whether a structured breathing and chest therapy program can change inflammatory biomarkers in adults with pneumonia in the ICU compared to usual care.
-
AI-powered CT help to guide pneumonia care
A multicenter trial tests whether using a chest CT–based AI report to guide care reduces death or need for new organ support in adults with pneumonia.
-
Wintergreen oil inhalation for shortness of breath in pneumonia patients
Hospitals will test whether inhaling wintergreen essential oil helps relieve dyspnea in adults with pneumonia.
-
ETHY-001 safety and activity in Thyroid Eye Disease (TED)
This study tests ETHY-001 versus placebo to see if it is safe, tolerable, and shows activity in people with thyroid eye disease.
-
Optimising Antibiotic Use for Paediatric LRTIs in Africa
This study tests whether using point-of-care CRP tests together with the PREPARE score can safely reduce antibiotic use in infants aged 2–24 months with lower respiratory infections in a Johannesburg hospital.
-
Buteyko Breathing vs Incentive Spirometry for Smog-Induced Pneumonia
We’re testing whether the Buteyko Breathing Technique can improve oxygen levels and breathe easier for adults with smog-related pneumonia compared to incentive spirometry.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.