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

Launched by NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES (NIAID) · Aug 8, 2000

Keywords

ClinConnect Summary

This clinical trial is focused on studying Hyper IgE Recurrent Infection Syndrome (HIES), a condition that affects the immune system and leads to frequent skin and lung infections, as well as other health issues. Researchers want to understand how specific genetic mutations, like those in the STAT3 gene, cause these problems. The goal is to gather information from patients and their families to learn more about the symptoms, how the disease develops, and how it can be better managed. They are looking to enroll 300 patients with a confirmed or suspected diagnosis of HIES, along with 300 family members for a more comprehensive study.

To be eligible for this trial, participants should be at least 1 month old if they have HIES, or at least 2 years old if they are family members who are healthy. The study welcomes both males and females and is currently recruiting participants. Those who join can expect thorough examinations by a team of specialists and will be followed over time to track their health and any changes. It's an opportunity to contribute to important research that could lead to better treatments and understanding of HIES and related conditions.

Gender

ALL

Eligibility 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.
• • Are male or female, aged
• • Aged
• • \>=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.