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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

00-I-0159

Sponsoring Institute

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 0
Max Age: 105

Referral Letter Required

Yes

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

IgE;
Fractures;
Pneumonia;
Scoliosis;
Eczema

Recruitment Keyword(s)

Job's Syndrome;
Hyperimmunologobulin E Syndrome;
HIE Syndrome

Condition(s)

Job's Syndrome

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Allergy and Infectious DiseasesAlbert Einstein School of Medicine

The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIES; Job's syndrome) is caused by STAT3 mutations, and is a multisystem 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. Mutations in DOCK8 cause many cases of autosomalrecessive 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 is being investigated. Therefore, we seek to enroll patients and families with a confirmed or suspected diagnosis of HIES syndrome for extensive phenotypic and genotypic study as well as disease management. Patients will be carefully examined by a multidisciplinary team and followed longitudinally. Through these studies we hope to better characterize the clinical presentation of HIES and to be able to identify further genetic etiologies, as well as understand the pathogenesis of HIES. We seek to enroll 200 patients and 300 relatives.

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Eligibility

INCLUSION CRITERIA:

Patients must be referred to the NIH with a diagnosis or a suspicion of Job Syndrome. Family members of probands and patients referred for other immune syndromes that demonstrate some the characteristics of Job's syndrome syndrome may also be evaluated under this protocol.

Male and female patients will be accepted.

EXCLUSION CRITERIA:

Pregnant women are excluded only from any procedure or test that may endanger the pregnancy or the fetus due to the risk from radiographic studies, anesthesia, or certain biopsies.

Coronary CT angiography will not be performed on any patient with contraindication to IV contrast media. This includes patients with: 1) creatinine value of greater than 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.


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Citations:

Fatal histiocytic lymphoma of the brain associated with hyperimmunoglobulinemia-E and recurrent infections

Recurrent severe staphylococcal infections, eczematoid rash, extreme elevations of IgE, eosinophilia, and divergent chemotactic responses in two generations

Extreme hyperimmunoglobulin E and undue susceptibility to infection

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Contacts:

Principal Investigator

Referral Contact

For more information:

Alexandra Freeman, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 10
Room 12C118
10 Center Drive
Bethesda, Maryland 20892
(301) 594-9045
freemaal@mail.nih.gov

Pamela A. Welch, R.N.
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 10
Room 12C103
10 Center Drive
Bethesda, Maryland 20892
(301) 402-0449
welchp@mail.nih.gov

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00006150

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