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

Recruitingn/aAges 1 Month - 120 YearsAllNational Institute of Allergy and Infectious Dise…
NCT00006150 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 co

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📋 Eligibility rules (as published)
* 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.
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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