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Understanding Hyper IgE Syndromes (HIES)

This observational study aims to better understand Hyper IgE Syndromes (HIES), which are immune system disorders causing eczema and frequent skin and lung infections. Researchers are studying different types of HIES, including those caused by changes in the STAT3 gene (AD-HIES, also known as Job's syndrome) and the DOCK8 gene. The goal is to learn more about how these genetic changes lead to various health problems, such as issues with bones, blood vessels, and connective tissues. The study also wants to assess the quality of life for people with HIES. You may be able to join if you have been diagnosed with or are suspected of having HIES, or if you have other immune syndromes that share some features of HIES. The study is currently ongoing, but the specific recruitment status is unclear.

Study design
This is an observational study, meaning researchers will study people without giving them new treatments. It aims to enroll 600 participants, ranging from 1 month to 120 years old.
What's involved
Participants will be carefully examined by a team of specialists and followed over time. The specific procedures and how long you would be involved are not detailed.
Compensation
Not stated in the trial record.
Follow-up
The primary goals of the study will be measured at the end of the study, but the duration of follow-up is not specified.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00006150

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

Recruiting
Not specifiedAges 1+Observational
National Institute of Allergy and Infectious Diseases (NIAID)
~600 participants
Updated 2026-08-27 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To clinically phenotype AD-HIES, DOCK8 deficiency, PGM3 deficiency and other related hyper IgE syndromes
Measured over end of study
+4 more outcomes measured

Conditions

Infections
Pneumonia
Immune System Diseases
STAT3 Transcription Factor
Job Syndrome

Explore related trials

DOCK8 DeficiencyHyperimmunoglobulin E SyndromePGM3-Associated Immunodeficiency

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Alexandra F Freeman, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

Who to contact

Jean M Ulrick
[email protected]
(301) 221-0855
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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.

What this trial measures

  • To clinically phenotype AD-HIES, DOCK8 deficiency, PGM3 deficiency and other related hyper IgE syndromesend of study

    established clinical phenotype of AD-HIES, DOCK8 deficiency, PGM3 deficiency and other related hyper IgE syndromes

  • To assess quality of life on the basis of clinical and immunologic evaluationsend of study

    quality of life assessments based on clinical and immunologic evaluations

  • To understand the pathogenesis of the immunologic defect in hyper IgE syndromes as well as the diverse clinical features such as wound healing abnormalitiesend of study

    understanding of the pathogenesis of the immunologic defect in hyper IgE syndromes as well as the diverse clinical features such as wound healing abnormalities

  • To identify, characterize, and treat complications of the hyper IgE syndromes as they ariseend of study

    identification, characterization, and treatment of complications of the hyper IgE syndromes

  • To identify novel genetic defects leading to hyper IgE syndromes.end of study

    identified novel genetic defects leading to hyper IgE syndromes.