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

  • STATUS
    Recruiting
  • participants needed
    600
  • sponsor
    National Institute of Allergy and Infectious Diseases (NIAID)
Updated on 15 September 2021
cancer
immunodeficiency
deficiency
eczema
malignancy

Summary

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 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.

Description

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.

Details
Condition Pulmonary Disease, Osteopenia, Eczema, Coronary artery aneurysm, Disorder of immune system, Job's Syndrome, Upper respiratory infection, Scoliosis, Pneumonia, Stat3 protein, ATOPIC DERMATITIS, Infection, Aneurysm, Eczema (Atopic Dermatitis), Dermatitis, Atopic, Eczema (Atopic Dermatitis - Pediatric), Eczéma (Dermatite Atopique), Dermatite Atopique, Airway Disease, Aneurysmal Coronary Artery Disease, infections, pneumoniae, pneumonitis, lung inflammation, hyper ige syndrome, immune disorder, immune disorders, immunologic disease, immune dysfunction, immune disease, immun
Clinical Study IdentifierNCT00006150
SponsorNational Institute of Allergy and Infectious Diseases (NIAID)
Last Modified on15 September 2021

Eligibility

Yes No Not Sure

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
>=1 month for affected subjects
>=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
) 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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