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Clinical Trial Details for Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection

National Institute of Allergy and Infectious Diseases (NIAID)
NCT ID: NCT00006150
Last Updated: November 2, 2019

The Study at a Glance

  • Status: Recruiting
  • Phase:
  • Gender: All
  • Age: N/A - N/A
  • Condition:
    • Osteopenia
    • Scoliosis
    • Airway Disease
    • Eczema
    • Aneurysmal Coronary Artery Disease
  • Study Type: Observational
  • Intervention:
  • Lead Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)
  • Location: Not Provided

Official Title

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


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 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 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 STAT3-mutated HIES, DOCK8 deficiency and other causes of the hyper IgE phenotype, and to be able to identify further genetic etiologies, as well as understand the pathogenesis of HIES. We seek to enroll 300 patients and 300 relatives.


Ages Eligible for Study

N/A to N/A

Sexes Eligible for Study


Accepts Healthy Volunteers


Study Population

primary clinical



Patients must be referred to the NIH with a diagnosis or a suspicion of Hyper IgE syndrome.
Family members of probands and patients referred for other immune syndromes that
demonstrate some of the characteristics of HIES may also be evaluated under this protocol.
Male and female patients will be accepted. An inclusion age range will be constructed to
accommodate at-risk infants born into affected families as well as to be able to examine
the members of extended families. The extent of evaluation will be tailored to the patient
s needs, age, and conditions. The cutaneous manifestations of Hyper IgE syndromes are often
present at birth and need management from that time on.


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. We
have seen flares of skin disease during pregnancy and therefore believe that enrolling and
following these patients during pregnancy is appropriate.

Coronary CTA will not be performed on any patient 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.

Additional Information, Locations & Contacts

Sponsors & Collaborators

National Institute of Allergy and Infectious Diseases (NIAID)

Albert Einstein College of Medicine


Principal Investigator: Alexandra Freeman, M.D.

National Institute of Allergy and Infectious Diseases (NIAID)

Please refer to this study by its ClinicalTrials.gov identifier: NCT00006150



National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland 20892

United States

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)