Status:
UNKNOWN
NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome
Lead Sponsor:
Shanghai Children's Medical Center
Conditions:
Job Syndrome
Eligibility:
All Genders
1-40 years
Brief Summary
Hyper IgE syndrome (HIES) is a rare and complex primary immunodeficiency that affects multiple systems. It is characterized by elevated Immunoglobulin E(IgE), recurrent skin and pulmonary infections a...
Eligibility Criteria
Inclusion
- Inclusion Criteria:
- Group 1 AD-HIES patients A.Patients with extremely high serum IgE levels, IgE\>2000IU/ml; B.Patients diagnosis referred to the NIH, and NIH score\>15; C.Patients must be confirmed with clinical manifestations of AD-HIES, namely:skin abscesses,pneumonias,distinctive facial appearance,dental abnormalities,minimal trauma fractures D.Patients must be confirmed with STAT3 gene mutations;
- Group 2 AR-HIES patients A.Patients with extremely high serum IgE levels, IgE\>2000IU/ml; B.Patients diagnosis referred to the NIH, and NIH score\>15; C.Patients must be confirmed with clinical manifestations of AR-HIES, namely:pneumonias,eczema,Skin abscesses,mucocutaneous viral infections,malignancy D.Patients must be confirmed with Dedicator of cytokinesis protein 8（DOCK8） or Tyrosine Kinase 2(Tyk2) gene mutations;
- Group 3 Healthy Control A.Healthy control aged 1-25 year at time of enrollment.
- Exclusion Criteria for all groups:
- Any subjects with serious conditions requiring treatment or hospitalization;
- Any subjects with pregnancy;
- Any subjects who have a history of bone marrow transplant,or have received treatment with chemotherapy or radiation;
Exclusion
Key Trial Info
Start Date :
September 1 2014
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
Estimated Enrollment :
40 Patients enrolled
Trial Details
Trial ID
NCT02228941
Start Date
September 1 2014
Last Update
August 29 2014
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