Ignite Creation Date:
2024-05-05 @ 10:23 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00006150
Status:
RECRUITING
Last Update Posted:
2024-07-15
First Post:
2000-08-08
Brief Title:
Natural History Management and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome HIES
Sponsor:
National Institute of Allergy and Infectious Diseases NIAID
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Natural History Management and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome HIES
Status:
RECRUITING
Status Verified Date:
2024-10-17
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 Jobs 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
Detailed 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 Jobs 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 00-I-0159 | None | None | None |